Linked Data
dbSNP Id:
rs1245650548
gnomAD v2:
8-37630383-C-T
gnomAD v3:
8-37772865-C-T
gnomAD v4:
8-37772865-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37772865C>T , CM000670.2:g.37772865C>T | GRCh38 |
| NC_000008.10:g.37630383C>T , CM000670.1:g.37630383C>T | GRCh37 |
| NC_000008.9:g.37749541C>T | NCBI36 |
| NG_053030.1:g.16113C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328195.8:c.430C>T MANE Select | ENSP00000333551.3:p.Gln144Ter | |
| ENST00000328195.7:c.430C>T | ENSP00000333551.3:p.Gln144Ter | |
| ENST00000518036.5:c.*282C>T | ENSP00000428005.1:n.*282C>T | |
| ENST00000521631.1:n.113C>T | ||
| ENST00000523187.5:c.274C>T | ENSP00000427886.1:p.Gln92Ter | |
| ENST00000523358.5:c.430C>T | ENSP00000427778.1:p.Gln144Ter | |
| ENST00000523521.1:c.187C>T | ENSP00000429425.1:p.Gln63Ter | |
| NM_007198.3:c.430C>T | NP_009129.1:p.Gln144Ter | |
| NM_001349346.1:c.430C>T | NP_001336275.1:p.Gln144Ter | |
| NM_001349347.1:c.424C>T | NP_001336276.1:p.Gln142Ter | |
| NM_001349348.1:c.274C>T | NP_001336277.1:p.Gln92Ter | |
| NM_007198.4:c.430C>T MANE Select | NP_009129.1:p.Gln144Ter | |
| NM_001349346.2:c.430C>T | NP_001336275.1:p.Gln144Ter | |
| NM_001349347.2:c.424C>T | NP_001336276.1:p.Gln142Ter | |
| NM_001349348.2:c.274C>T | NP_001336277.1:p.Gln92Ter |