Linked Data
dbSNP Id:
rs61750409
ExAC:
7:92135565 G / A
gnomAD v2:
7-92135565-G-A
gnomAD v3:
7-92506251-G-A
gnomAD v4:
7-92506251-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92506251G>A , CM000669.2:g.92506251G>A | GRCh38 |
| NC_000007.13:g.92135565G>A , CM000669.1:g.92135565G>A | GRCh37 |
| NC_000007.12:g.91973501G>A | NCBI36 |
| NG_008341.1:g.27281C>T | |
| NG_008341.2:g.27281C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000248633.9:c.1897C>T MANE Select | ENSP00000248633.4:p.Arg633Ter | |
| ENST00000248633.8:c.1897C>T | ENSP00000248633.4:p.Arg633Ter | |
| ENST00000422866.1:c.715C>T | ||
| ENST00000428214.5:c.1897C>T | ENSP00000394413.1:p.Arg633Ter | |
| ENST00000438045.5:c.931C>T | ENSP00000410438.1:p.Arg311Ter | |
| ENST00000484913.5:n.1936C>T | ||
| ENST00000496420.5:n.1573C>T | ||
| NM_000466.2:c.1897C>T | NP_000457.1:p.Arg633Ter | |
| NM_001282677.1:c.1897C>T | NP_001269606.1:p.Arg633Ter | |
| NM_001282678.1:c.1273C>T | NP_001269607.1:p.Arg425Ter | |
| XM_005250433.3:c.148C>T | XP_005250490.1:p.Arg50Ter | |
| XR_242246.3:n.1993C>T | ||
| XM_017012319.2:c.148C>T | XP_016867808.1:p.Arg50Ter | |
| XR_001744808.2:n.924C>T | ||
| XR_242246.5:n.1944C>T | ||
| NM_000466.3:c.1897C>T MANE Select | NP_000457.1:p.Arg633Ter | |
| NM_001282677.2:c.1897C>T | NP_001269606.1:p.Arg633Ter | |
| NM_001282678.2:c.1273C>T | NP_001269607.1:p.Arg425Ter |