UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
ClinVar Variation Id:
422173
ClinVar RCV Id:
RCV000482549
dbSNP Id:
rs1064795604
gnomAD v2:
16-28495353-C-T
gnomAD v4:
16-28484032-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28484032C>T , CM000678.2:g.28484032C>T | GRCh38 |
| NC_000016.9:g.28495353C>T , CM000678.1:g.28495353C>T | GRCh37 |
| NC_000016.8:g.28402854C>T | NCBI36 |
| NG_008654.2:g.13271G>A , LRG_689:g.13271G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000333496.14:c.692G>A | ENSP00000329171.9:p.Arg231Lys | |
| ENST00000355477.10:c.620G>A | ENSP00000347660.7:p.Arg207Lys | |
| ENST00000357857.14:c.602G>A | ENSP00000350523.9:p.Arg201Lys | |
| ENST00000359984.12:c.764G>A | ENSP00000353073.9:p.Arg255Lys | |
| ENST00000360019.8:c.692G>A | ENSP00000353116.3:p.Arg231Lys | |
| ENST00000395653.9:c.305G>A | ENSP00000379014.5:p.Arg102Lys | |
| ENST00000561689.6:n.1049G>A | ||
| ENST00000564091.6:c.104G>A | ENSP00000454466.2:p.Arg35Lys | |
| ENST00000565316.6:c.764G>A | ENSP00000456117.1:p.Arg255Lys | |
| ENST00000565778.6:c.395G>A | ENSP00000458015.1:p.Arg132Lys | |
| ENST00000566083.6:n.1222G>A | ||
| ENST00000566824.6:n.744G>A | ||
| ENST00000567963.6:c.602G>A | ENSP00000455387.2:p.Arg201Lys | |
| ENST00000568076.6:n.891G>A | ||
| ENST00000568422.6:c.*1G>A | ENSP00000455549.2:n.*1G>A | |
| ENST00000568452.6:n.867G>A | ||
| ENST00000568472.6:n.640G>A | ||
| ENST00000568497.6:c.-206G>A | ENSP00000456414.2:n.-206G>A | |
| ENST00000568558.6:c.467G>A | ENSP00000455603.2:p.Arg156Lys | |
| ENST00000569430.7:c.764G>A | ENSP00000454229.1:p.Arg255Lys | |
| ENST00000628023.3:c.*60G>A | ENSP00000486178.1:n.*60G>A | |
| ENST00000635861.1:c.*288G>A | ENSP00000490034.1:n.*288G>A | |
| ENST00000635887.1:c.764G>A | ENSP00000490709.1:p.Arg255Lys | |
| ENST00000635958.1:n.875G>A | ||
| ENST00000635973.1:c.515G>A | ENSP00000490363.1:p.Arg172Lys | |
| ENST00000636017.1:c.*288G>A | ENSP00000490538.1:n.*288G>A | |
| ENST00000636078.1:n.806G>A | ||
| ENST00000636147.2:c.764G>A MANE Select | ENSP00000490105.1:p.Arg255Lys | |
| ENST00000636172.1:c.*288G>A | ENSP00000490505.1:n.*288G>A | |
| ENST00000636228.1:c.458G>A | ENSP00000489627.1:p.Arg153Lys | |
| ENST00000636351.1:n.484G>A | ||
| ENST00000636503.1:c.764G>A | ENSP00000489824.1:p.Arg255Lys | |
| ENST00000636685.1:n.271G>A | ||
| ENST00000636766.1:c.764G>A | ENSP00000489841.1:p.Arg255Lys | |
| ENST00000636839.1:n.916G>A | ||
| ENST00000636853.1:n.1679G>A | ||
| ENST00000636866.1:c.764G>A | ENSP00000490880.1:p.Arg255Lys | |
| ENST00000636907.1:n.915G>A | ||
| ENST00000636977.1:n.1832G>A | ||
| ENST00000637050.1:n.851G>A | ||
| ENST00000637100.1:c.764G>A | ENSP00000490394.1:p.Arg255Lys | |
| ENST00000637107.1:c.*288G>A | ENSP00000490248.1:n.*288G>A | |
| ENST00000637184.1:c.764G>A | ENSP00000489952.1:p.Arg255Lys | |
| ENST00000637299.1:c.*573G>A | ENSP00000489823.1:n.*573G>A | |
| ENST00000637376.1:c.764G>A | ENSP00000490758.1:p.Arg255Lys | |
| ENST00000637578.1:c.*288G>A | ENSP00000490206.1:n.*288G>A | |
| ENST00000637699.1:c.547G>A | ENSP00000490049.1:n.547G>A | |
| ENST00000637745.1:c.103G>A | ||
| ENST00000637871.1:c.*288G>A | ENSP00000490670.1:n.*288G>A | |
| ENST00000333496.13:c.692G>A | ENSP00000329171.9:p.Arg231Lys | |
| ENST00000355477.9:c.*1G>A | ENSP00000347660.6:n.*1G>A | |
| ENST00000357806.11:c.467G>A | ENSP00000350457.7:p.Arg156Lys | |
| ENST00000357857.13:c.602G>A | ENSP00000350523.9:p.Arg201Lys | |
| ENST00000359984.11:c.458G>A | ENSP00000353073.8:p.Arg153Lys | |
| ENST00000360019.6:c.764G>A | ENSP00000353116.2:p.Arg255Lys | |
| ENST00000395653.8:c.464G>A | ENSP00000379014.4:p.Arg155Lys | |
| ENST00000561689.5:n.605G>A | ||
| ENST00000563874.5:n.2118G>A | ||
| ENST00000564574.5:n.812G>A | ||
| ENST00000565047.1:n.358G>A | ||
| ENST00000565140.5:c.547G>A | ENSP00000455342.1:n.547G>A | |
| ENST00000565316.5:c.764G>A | ENSP00000456117.1:p.Arg255Lys | |
| ENST00000565688.5:c.515G>A | ENSP00000456122.1:p.Arg172Lys | |
| ENST00000565778.5:c.395G>A | ENSP00000458015.1:p.Arg132Lys | |
| ENST00000566057.5:c.378G>A | ENSP00000456693.1:n.378G>A | |
| ENST00000566083.5:n.995G>A | ||
| ENST00000566824.5:n.813G>A | ||
| ENST00000567495.5:c.*1G>A | ENSP00000456013.1:n.*1G>A | |
| ENST00000567963.5:c.764G>A | ENSP00000455387.1:p.Arg255Lys | |
| ENST00000568076.5:n.547G>A | ||
| ENST00000568224.4:c.530G>A | ENSP00000454253.1:p.Arg177Lys | |
| ENST00000568422.5:c.*1G>A | ENSP00000455549.1:n.*1G>A | |
| ENST00000568452.5:n.764G>A | ||
| ENST00000568472.5:n.244G>A | ||
| ENST00000568497.5:c.*60G>A | ENSP00000456414.1:n.*60G>A | |
| ENST00000568558.5:c.305G>A | ENSP00000455603.1:p.Arg102Lys | |
| ENST00000569030.5:c.461-1360G>A | ENSP00000454680.1:n.461-1360G>A | |
| ENST00000569430.5:c.764G>A | ENSP00000454229.1:p.Arg255Lys | |
| ENST00000628023.2:c.*60G>A | ENSP00000486178.1:n.*60G>A | |
| ENST00000631023.2:c.764G>A | ENSP00000486616.1:p.Arg255Lys | |
| NM_000086.2:c.764G>A , LRG_689t1:c.764G>A | NP_000077.1:p.Arg255Lys | |
| NM_001042432.1:c.764G>A , LRG_689t2:c.764G>A | NP_001035897.1:p.Arg255Lys | |
| NM_001286104.1:c.692G>A | NP_001273033.1:p.Arg231Lys | |
| NM_001286105.1:c.464G>A | NP_001273034.1:p.Arg155Lys | |
| NM_001286109.1:c.530G>A | NP_001273038.1:p.Arg177Lys | |
| NM_001286110.1:c.602G>A | NP_001273039.1:p.Arg201Lys | |
| NM_001042432.2:c.764G>A MANE Select | NP_001035897.1:p.Arg255Lys | |
| NM_001286104.2:c.692G>A | NP_001273033.1:p.Arg231Lys | |
| NM_001286105.2:c.464G>A | NP_001273034.1:p.Arg155Lys | |
| NM_001286109.2:c.530G>A | NP_001273038.1:p.Arg177Lys | |
| NM_001286110.2:c.602G>A | NP_001273039.1:p.Arg201Lys |