Linked Data
dbSNP Id:
rs1434224447
gnomAD v2:
7-92147530-G-T
gnomAD v3:
7-92518216-G-T
gnomAD v4:
7-92518216-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92518216G>T , CM000669.2:g.92518216G>T | GRCh38 |
| NC_000007.13:g.92147530G>T , CM000669.1:g.92147530G>T | GRCh37 |
| NC_000007.12:g.91985466G>T | NCBI36 |
| NG_008341.1:g.15316C>A | |
| NG_008341.2:g.15316C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.397C>A MANE Select | ENSP00000248633.4:p.Gln133Lys | |
| ENST00000248633.8:c.397C>A | ENSP00000248633.4:p.Gln133Lys | |
| ENST00000428214.5:c.397C>A | ENSP00000394413.1:p.Gln133Lys | |
| ENST00000438045.5:c.273+3886C>A | ENSP00000410438.1:n.273+3886C>A | |
| ENST00000484913.5:n.436C>A | ||
| NM_000466.2:c.397C>A | NP_000457.1:p.Gln133Lys | |
| NM_001282677.1:c.397C>A | NP_001269606.1:p.Gln133Lys | |
| NM_001282678.1:c.-228C>A | NP_001269607.1:n.-228C>A | |
| XR_242246.3:n.493C>A | ||
| XR_242246.5:n.444C>A | ||
| NM_000466.3:c.397C>A MANE Select | NP_000457.1:p.Gln133Lys | |
| NM_001282677.2:c.397C>A | NP_001269606.1:p.Gln133Lys | |
| NM_001282678.2:c.-228C>A | NP_001269607.1:n.-228C>A |