Linked Data
ClinVar Variation Id:
3013868
ClinVar RCV Id:
RCV003873443
dbSNP Id:
rs777104264
ExAC:
7:87069091 G / A
gnomAD v2:
7-87069091-G-A
gnomAD v4:
7-87439775-G-A
COSMIC:
COSM4469857
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.87439775G>A , CM000669.2:g.87439775G>A | GRCh38 |
| NC_000007.13:g.87069091G>A , CM000669.1:g.87069091G>A | GRCh37 |
| NC_000007.12:g.86907027G>A | NCBI36 |
| NG_007118.1:g.45658C>T | |
| NG_007118.2:g.45658C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000359206.8:c.1623C>T | ENSP00000352135.3:p.Ile541= | |
| ENST00000643670.1:c.1639C>T | ENSP00000496629.1:n.1639C>T | |
| ENST00000644106.1:c.*1160C>T | ENSP00000493477.1:n.*1160C>T | |
| ENST00000649586.2:c.1623C>T MANE Select | ENSP00000496956.2:p.Ile541= | |
| ENST00000265723.8:c.1623C>T | ENSP00000265723.4:p.Ile541= | |
| ENST00000358400.7:c.1623C>T | ENSP00000351172.3:p.Ile541= | |
| ENST00000359206.7:c.1623C>T | ENSP00000352135.3:p.Ile541= | |
| ENST00000453593.5:c.1623C>T | ENSP00000392983.1:p.Ile541= | |
| NM_000443.3:c.1623C>T | NP_000434.1:p.Ile541= | |
| NM_018849.2:c.1623C>T | NP_061337.1:p.Ile541= | |
| NM_018850.2:c.1623C>T | NP_061338.1:p.Ile541= | |
| XM_011516308.1:c.1623C>T | XP_011514610.1:p.Ile541= | |
| XM_011516309.1:c.1623C>T | XP_011514611.1:p.Ile541= | |
| XM_011516310.1:c.1623C>T | XP_011514612.1:p.Ile541= | |
| XM_011516311.1:c.1623C>T | XP_011514613.1:p.Ile541= | |
| XM_011516312.1:c.1623C>T | XP_011514614.1:p.Ile541= | |
| XM_011516313.1:c.1623C>T | XP_011514615.1:p.Ile541= | |
| XM_011516314.1:c.1644C>T | XP_011514616.1:p.Ile548= | |
| XM_011516315.1:c.963C>T | XP_011514617.1:p.Ile321= | |
| XR_927478.1:n.1719C>T | ||
| XM_011516308.3:c.1893C>T | XP_011514610.3:p.Ile631= | |
| XM_011516309.3:c.1893C>T | XP_011514611.3:p.Ile631= | |
| XM_011516310.3:c.1893C>T | XP_011514612.3:p.Ile631= | |
| XM_011516311.3:c.1893C>T | XP_011514613.3:p.Ile631= | |
| XM_011516312.3:c.1893C>T | XP_011514614.3:p.Ile631= | |
| XM_011516313.3:c.1893C>T | XP_011514615.2:p.Ile631= | |
| XM_011516315.3:c.963C>T | XP_011514617.2:p.Ile321= | |
| XM_017012323.2:c.1623C>T | XP_016867812.1:p.Ile541= | |
| XR_001744809.2:n.2394C>T | ||
| XR_001744810.2:n.2389C>T | ||
| NM_000443.4:c.1623C>T MANE Select | NP_000434.1:p.Ile541= | |
| NM_018849.3:c.1623C>T | NP_061337.1:p.Ile541= | |
| NM_018850.3:c.1623C>T | NP_061338.1:p.Ile541= |