gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143330867C>T , CM000669.2:g.143330867C>T | GRCh38 |
| NC_000007.13:g.143027960C>T , CM000669.1:g.143027960C>T | GRCh37 |
| NC_000007.12:g.142738082C>T | NCBI36 |
| NG_009815.1:g.19742C>T | |
| NG_009815.2:g.19742C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.949C>T | ENSP00000498052.2:p.Arg317Ter | |
| ENST00000343257.7:c.949C>T MANE Select | ENSP00000339867.2:p.Arg317Ter | |
| ENST00000432192.6:c.773C>T | ||
| ENST00000455478.6:c.537C>T | ENSP00000400027.2:n.537C>T | |
| ENST00000650516.1:c.949C>T | ENSP00000498052.1:p.Arg317Ter | |
| ENST00000343257.6:c.949C>T | ENSP00000339867.2:p.Arg317Ter | |
| ENST00000432192.5:c.463C>T | ||
| ENST00000455478.5:c.541C>T | ||
| ENST00000495612.1:n.250C>T | ||
| NM_000083.2:c.949C>T | NP_000074.2:p.Arg317Ter | |
| NR_046453.1:n.1039C>T | ||
| XM_011515781.1:c.949C>T | XP_011514083.1:p.Arg317Ter | |
| XM_017011739.1:c.499C>T | XP_016867228.1:p.Arg167Ter | |
| XM_017011740.1:c.499C>T | XP_016867229.1:p.Arg167Ter | |
| NM_000083.3:c.949C>T MANE Select | NP_000074.3:p.Arg317Ter | |
| NR_046453.2:n.1054C>T |