Linked Data
ClinVar Variation Id:
498956
dbSNP Id:
rs112851814
ExAC:
1:10678381 G / T
gnomAD v2:
1-10678381-G-T
gnomAD v3:
1-10618324-G-T
gnomAD v4:
1-10618324-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.10618324G>T , CM000663.2:g.10618324G>T | GRCh38 |
| NC_000001.10:g.10678381G>T , CM000663.1:g.10678381G>T | GRCh37 |
| NC_000001.9:g.10600968G>T | NCBI36 |
| NG_008340.1:g.148379G>T | |
| NG_008340.2:g.148379G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356607.9:c.299-8G>T MANE Select | ENSP00000349016.4:n.299-8G>T | |
| ENST00000356607.8:c.299-8G>T | ENSP00000349016.4:n.299-8G>T | |
| ENST00000491661.2:c.284-8G>T | ENSP00000465473.1:n.284-8G>T | |
| NM_004565.2:c.299-8G>T | NP_004556.1:n.299-8G>T | |
| XM_005263470.3:c.107-8G>T | XP_005263527.1:n.107-8G>T | |
| XM_011541577.1:c.341-8G>T | XP_011539879.1:n.341-8G>T | |
| XM_011541578.1:c.242-8G>T | XP_011539880.1:n.242-8G>T | |
| XM_011541579.1:c.212-8G>T | XP_011539881.1:n.212-8G>T | |
| XM_011541580.1:c.170-8G>T | XP_011539882.1:n.170-8G>T | |
| XM_005263470.5:c.107-8G>T | XP_005263527.1:n.107-8G>T | |
| XM_011541577.2:c.341-8G>T | XP_011539879.1:n.341-8G>T | |
| XM_011541578.2:c.242-8G>T | XP_011539880.1:n.242-8G>T | |
| XM_011541579.3:c.212-8G>T | XP_011539881.1:n.212-8G>T | |
| XM_024447651.1:c.107-8G>T | XP_024303419.1:n.107-8G>T | |
| NM_004565.3:c.299-8G>T MANE Select | NP_004556.1:n.299-8G>T |