Linked Data
ClinVar Variation Id:
205081
dbSNP Id:
rs370217726
ExAC:
16:28503121 G / T
gnomAD v2:
16-28503121-G-T
gnomAD v3:
16-28491800-G-T
gnomAD v4:
16-28491800-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28491800G>T , CM000678.2:g.28491800G>T | GRCh38 |
| NC_000016.9:g.28503121G>T , CM000678.1:g.28503121G>T | GRCh37 |
| NC_000016.8:g.28410622G>T | NCBI36 |
| NG_008654.2:g.5503C>A , LRG_689:g.5503C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333496.14:c.-41C>A | ENSP00000329171.9:n.-41C>A | |
| ENST00000357857.14:c.-124C>A | ENSP00000350523.9:n.-124C>A | |
| ENST00000359984.12:c.-41C>A | ENSP00000353073.9:n.-41C>A | |
| ENST00000360019.8:c.-41C>A | ENSP00000353116.3:n.-41C>A | |
| ENST00000395653.9:c.-124C>A | ENSP00000379014.5:n.-124C>A | |
| ENST00000561505.2:c.-124C>A | ENSP00000457615.2:n.-124C>A | |
| ENST00000561689.6:n.245C>A | ||
| ENST00000565778.6:c.-41C>A | ENSP00000458015.1:n.-41C>A | |
| ENST00000566083.6:n.265C>A | ||
| ENST00000567495.6:c.-41C>A | ENSP00000456013.2:n.-41C>A | |
| ENST00000567963.6:c.-124C>A | ENSP00000455387.2:n.-124C>A | |
| ENST00000568076.6:n.87C>A | ||
| ENST00000568422.6:c.-41C>A | ENSP00000455549.2:n.-41C>A | |
| ENST00000568443.2:c.-41C>A | ENSP00000454899.2:n.-41C>A | |
| ENST00000568452.6:n.63C>A | ||
| ENST00000568472.6:n.212C>A | ||
| ENST00000568497.6:c.-476C>A | ENSP00000456414.2:n.-476C>A | |
| ENST00000568558.6:c.-41C>A | ENSP00000455603.2:n.-41C>A | |
| ENST00000569430.7:c.-41C>A | ENSP00000454229.1:n.-41C>A | |
| ENST00000628023.3:c.-41C>A | ENSP00000486178.1:n.-41C>A | |
| ENST00000635861.1:c.-124C>A | ENSP00000490034.1:n.-124C>A | |
| ENST00000635887.1:c.-41C>A | ENSP00000490709.1:n.-41C>A | |
| ENST00000635958.1:n.71C>A | ||
| ENST00000635973.1:c.-41C>A | ENSP00000490363.1:n.-41C>A | |
| ENST00000636017.1:c.-41C>A | ENSP00000490538.1:n.-41C>A | |
| ENST00000636078.1:n.2C>A | ||
| ENST00000636147.2:c.-41C>A MANE Select | ENSP00000490105.1:n.-41C>A | |
| ENST00000636172.1:c.-41C>A | ENSP00000490505.1:n.-41C>A | |
| ENST00000636228.1:c.-124C>A | ENSP00000489627.1:n.-124C>A | |
| ENST00000636766.1:c.-41C>A | ENSP00000489841.1:n.-41C>A | |
| ENST00000636839.1:n.112C>A | ||
| ENST00000636853.1:n.36C>A | ||
| ENST00000636866.1:c.-41C>A | ENSP00000490880.1:n.-41C>A | |
| ENST00000636977.1:n.59C>A | ||
| ENST00000637100.1:c.-41C>A | ENSP00000490394.1:n.-41C>A | |
| ENST00000637107.1:c.-41C>A | ENSP00000490248.1:n.-41C>A | |
| ENST00000637184.1:c.-41C>A | ENSP00000489952.1:n.-41C>A | |
| ENST00000637299.1:c.-41C>A | ENSP00000489823.1:n.-41C>A | |
| ENST00000637376.1:c.-41C>A | ENSP00000490758.1:n.-41C>A | |
| ENST00000637578.1:c.-124C>A | ENSP00000490206.1:n.-124C>A | |
| ENST00000637871.1:c.-41C>A | ENSP00000490670.1:n.-41C>A | |
| ENST00000333496.13:c.-41C>A | ENSP00000329171.9:n.-41C>A | |
| ENST00000355477.9:c.-41C>A | ENSP00000347660.6:n.-41C>A | |
| ENST00000357806.11:c.-41C>A | ENSP00000350457.7:n.-41C>A | |
| ENST00000357857.13:c.-124C>A | ENSP00000350523.9:n.-124C>A | |
| ENST00000359984.11:c.-203C>A | ENSP00000353073.8:n.-203C>A | |
| ENST00000360019.6:c.-41C>A | ENSP00000353116.2:n.-41C>A | |
| ENST00000395653.8:c.-182C>A | ENSP00000379014.4:n.-182C>A | |
| ENST00000561505.1:c.-182C>A | ENSP00000457615.1:n.-182C>A | |
| ENST00000563874.5:n.1314C>A | ||
| ENST00000564574.5:n.87C>A | ||
| ENST00000565047.1:n.27C>A | ||
| ENST00000565236.1:n.243C>A | ||
| ENST00000565688.5:c.-41C>A | ENSP00000456122.1:n.-41C>A | |
| ENST00000565778.5:c.-41C>A | ENSP00000458015.1:n.-41C>A | |
| ENST00000566083.5:n.38C>A | ||
| ENST00000566824.5:n.89C>A | ||
| ENST00000567495.5:c.-41C>A | ENSP00000456013.1:n.-41C>A | |
| ENST00000567804.1:c.-41C>A | ENSP00000455365.1:n.-41C>A | |
| ENST00000567963.5:c.-41C>A | ENSP00000455387.1:n.-41C>A | |
| ENST00000568224.4:c.-124C>A | ENSP00000454253.1:n.-124C>A | |
| ENST00000568422.5:c.-182C>A | ENSP00000455549.1:n.-182C>A | |
| ENST00000568443.1:c.-41C>A | ENSP00000454899.1:n.-41C>A | |
| ENST00000568497.5:c.-41C>A | ENSP00000456414.1:n.-41C>A | |
| ENST00000568558.5:c.-124C>A | ENSP00000455603.1:n.-124C>A | |
| ENST00000569430.5:c.-41C>A | ENSP00000454229.1:n.-41C>A | |
| ENST00000628023.2:c.-41C>A | ENSP00000486178.1:n.-41C>A | |
| ENST00000631023.2:c.-41C>A | ENSP00000486616.1:n.-41C>A | |
| NM_000086.2:c.-41C>A , LRG_689t1:c.-41C>A | NP_000077.1:n.-41C>A | |
| NM_001042432.1:c.-41C>A , LRG_689t2:c.-41C>A | NP_001035897.1:n.-41C>A | |
| NM_001286104.1:c.-41C>A | NP_001273033.1:n.-41C>A | |
| NM_001286105.1:c.-182C>A | NP_001273034.1:n.-182C>A | |
| NM_001286109.1:c.-124C>A | NP_001273038.1:n.-124C>A | |
| NM_001286110.1:c.-124C>A | NP_001273039.1:n.-124C>A | |
| NM_001042432.2:c.-41C>A MANE Select | NP_001035897.1:n.-41C>A | |
| NM_001286104.2:c.-41C>A | NP_001273033.1:n.-41C>A | |
| NM_001286105.2:c.-182C>A | NP_001273034.1:n.-182C>A | |
| NM_001286109.2:c.-124C>A | NP_001273038.1:n.-124C>A | |
| NM_001286110.2:c.-124C>A | NP_001273039.1:n.-124C>A |