Linked Data
dbSNP Id:
rs11568496
ExAC:
11:62766439 G / A
gnomAD v2:
11-62766439-G-A
gnomAD v3:
11-62998967-G-A
gnomAD v4:
11-62998967-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.62998967G>A , CM000673.2:g.62998967G>A | GRCh38 |
| NC_000011.9:g.62766439G>A , CM000673.1:g.62766439G>A | GRCh37 |
| NC_000011.8:g.62523015G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000336232.7:c.715C>T MANE Select | ENSP00000337335.2:p.Gln239Ter | |
| ENST00000311438.12:c.715C>T | ENSP00000311463.8:p.Gln239Ter | |
| ENST00000336232.6:c.715C>T | ENSP00000337335.2:p.Gln239Ter | |
| ENST00000430500.6:c.715C>T | ENSP00000398548.2:p.Gln239Ter | |
| ENST00000535878.5:c.346C>T | ENSP00000443368.1:p.Gln116Ter | |
| ENST00000539841.1:n.533C>T | ||
| ENST00000542795.5:n.436C>T | ||
| ENST00000542904.1:n.555C>T | ||
| ENST00000545207.5:c.442C>T | ENSP00000441658.1:p.Gln148Ter | |
| NM_001184732.1:c.715C>T | NP_001171661.1:p.Gln239Ter | |
| NM_001184733.1:c.442C>T | NP_001171662.1:p.Gln148Ter | |
| NM_001184736.1:c.346C>T | NP_001171665.1:p.Gln116Ter | |
| NM_004254.3:c.715C>T | NP_004245.2:p.Gln239Ter | |
| XM_011545364.1:c.346C>T | XP_011543666.1:p.Gln116Ter | |
| NM_004254.4:c.715C>T MANE Select | NP_004245.2:p.Gln239Ter | |
| NM_001184732.2:c.715C>T | NP_001171661.1:p.Gln239Ter | |
| NM_001184733.2:c.442C>T | NP_001171662.1:p.Gln148Ter | |
| NM_001184736.2:c.346C>T | NP_001171665.1:p.Gln116Ter |