gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00001427 (SAS)
Exomes Max Group AF
0.00001584 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.203870932T>A , CM000664.2:g.203870932T>A | GRCh38 |
| NC_000002.11:g.204735655T>A , CM000664.1:g.204735655T>A | GRCh37 |
| NC_000002.10:g.204443900T>A | NCBI36 |
| NG_011502.1:g.8147T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696049.1:c.456T>A | ENSP00000512353.1:p.Ile152= | |
| ENST00000696479.1:c.528T>A | ENSP00000512655.1:p.Ile176= | |
| ENST00000427473.3:n.490T>A | ||
| ENST00000648405.2:c.456T>A MANE Select | ENSP00000497102.1:p.Ile152= | |
| ENST00000650075.1:n.480T>A | ||
| ENST00000295854.10:c.456T>A | ENSP00000295854.6:p.Ile152= | |
| ENST00000302823.7:c.456T>A | ENSP00000303939.3:p.Ile152= | |
| ENST00000427473.2:c.345T>A | ENSP00000409707.2:p.Ile115= | |
| ENST00000472206.1:c.172+284T>A | ENSP00000417779.1:n.172+284T>A | |
| ENST00000487393.1:n.110-1776T>A | ||
| NM_001037631.2:c.456T>A | NP_001032720.1:p.Ile152= | |
| NM_005214.4:c.456T>A | NP_005205.2:p.Ile152= | |
| XR_241294.1:n.596T>A | ||
| NM_001037631.3:c.456T>A | NP_001032720.1:p.Ile152= | |
| NM_005214.5:c.456T>A MANE Select | NP_005205.2:p.Ile152= |