Linked Data
ClinVar Variation Id:
288624
dbSNP Id:
rs377706756
ExAC:
2:71839870 C / T
gnomAD v2:
2-71839870-C-T
gnomAD v3:
2-71612740-C-T
gnomAD v4:
2-71612740-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.71612740C>T , CM000664.2:g.71612740C>T | GRCh38 |
| NC_000002.11:g.71839870C>T , CM000664.1:g.71839870C>T | GRCh37 |
| NC_000002.10:g.71693378C>T | NCBI36 |
| NG_008694.1:g.164118C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698057.1:c.1735C>T | ENSP00000513536.1:p.Arg579Cys | |
| ENST00000698058.1:c.952C>T | ENSP00000513537.1:p.Arg318Cys | |
| ENST00000698059.1:c.910C>T | ENSP00000513538.1:p.Arg304Cys | |
| ENST00000258104.8:c.4267C>T MANE Plus Clinical | ENSP00000258104.3:p.Arg1423Cys | |
| ENST00000410020.8:c.4321C>T MANE Select | ENSP00000386881.3:p.Arg1441Cys | |
| ENST00000258104.7:c.4267C>T | ENSP00000258104.3:p.Arg1423Cys | |
| ENST00000394120.6:c.4270C>T | ENSP00000377678.2:p.Arg1424Cys | |
| ENST00000409366.5:c.4270C>T | ENSP00000386512.1:p.Arg1424Cys | |
| ENST00000409582.7:c.4318C>T | ENSP00000386547.3:p.Arg1440Cys | |
| ENST00000409651.5:c.4363C>T | ENSP00000386683.1:p.Arg1455Cys | |
| ENST00000409744.5:c.4228C>T | ENSP00000386285.1:p.Arg1410Cys | |
| ENST00000409762.5:c.4318C>T | ENSP00000387137.1:p.Arg1440Cys | |
| ENST00000410020.7:c.4321C>T | ENSP00000386881.3:p.Arg1441Cys | |
| ENST00000410041.1:c.4321C>T | ENSP00000386617.1:p.Arg1441Cys | |
| ENST00000413539.6:c.4360C>T | ENSP00000407046.2:p.Arg1454Cys | |
| ENST00000429174.6:c.4267C>T | ENSP00000398305.2:p.Arg1423Cys | |
| ENST00000468173.1:n.503C>T | ||
| ENST00000479049.6:n.1152C>T | ||
| ENST00000487180.5:n.486C>T | ||
| NM_001130455.1:c.4270C>T | NP_001123927.1:p.Arg1424Cys | |
| NM_001130976.1:c.4225C>T | NP_001124448.1:p.Arg1409Cys | |
| NM_001130977.1:c.4225C>T | NP_001124449.1:p.Arg1409Cys | |
| NM_001130978.1:c.4267C>T | NP_001124450.1:p.Arg1423Cys | |
| NM_001130979.1:c.4360C>T | NP_001124451.1:p.Arg1454Cys | |
| NM_001130980.1:c.4318C>T | NP_001124452.1:p.Arg1440Cys | |
| NM_001130981.1:c.4318C>T | NP_001124453.1:p.Arg1440Cys | |
| NM_001130982.1:c.4363C>T | NP_001124454.1:p.Arg1455Cys | |
| NM_001130983.1:c.4270C>T | NP_001124455.1:p.Arg1424Cys | |
| NM_001130984.1:c.4228C>T | NP_001124456.1:p.Arg1410Cys | |
| NM_001130985.1:c.4321C>T | NP_001124457.1:p.Arg1441Cys | |
| NM_001130986.1:c.4228C>T | NP_001124458.1:p.Arg1410Cys | |
| NM_001130987.1:c.4321C>T | NP_001124459.1:p.Arg1441Cys | |
| NM_003494.3:c.4267C>T | NP_003485.1:p.Arg1423Cys | |
| XM_005264584.3:c.4363C>T | XP_005264641.1:p.Arg1455Cys | |
| XM_005264585.3:c.4360C>T | XP_005264642.1:p.Arg1454Cys | |
| XM_005264584.4:c.4363C>T | XP_005264641.1:p.Arg1455Cys | |
| XM_005264585.5:c.4360C>T | XP_005264642.1:p.Arg1454Cys | |
| XR_001738969.1:n.4521C>T | ||
| NM_001130987.2:c.4321C>T MANE Select | NP_001124459.1:p.Arg1441Cys | |
| NM_001130455.2:c.4270C>T | NP_001123927.1:p.Arg1424Cys | |
| NM_001130976.2:c.4225C>T | NP_001124448.1:p.Arg1409Cys | |
| NM_001130977.2:c.4225C>T | NP_001124449.1:p.Arg1409Cys | |
| NM_001130978.2:c.4267C>T | NP_001124450.1:p.Arg1423Cys | |
| NM_001130979.2:c.4360C>T | NP_001124451.1:p.Arg1454Cys | |
| NM_001130980.2:c.4318C>T | NP_001124452.1:p.Arg1440Cys | |
| NM_001130981.2:c.4318C>T | NP_001124453.1:p.Arg1440Cys | |
| NM_001130982.2:c.4363C>T | NP_001124454.1:p.Arg1455Cys | |
| NM_001130983.2:c.4270C>T | NP_001124455.1:p.Arg1424Cys | |
| NM_001130984.2:c.4228C>T | NP_001124456.1:p.Arg1410Cys | |
| NM_001130985.2:c.4321C>T | NP_001124457.1:p.Arg1441Cys | |
| NM_001130986.2:c.4228C>T | NP_001124458.1:p.Arg1410Cys | |
| NM_003494.4:c.4267C>T MANE Plus Clinical | NP_003485.1:p.Arg1423Cys |