Linked Data
dbSNP Id:
rs201490388
ExAC:
4:38799612 C / T
gnomAD v2:
4-38799612-C-T
gnomAD v3:
4-38797991-C-T
gnomAD v4:
4-38797991-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.38797991C>T , CM000666.2:g.38797991C>T | GRCh38 |
| NC_000004.11:g.38799612C>T , CM000666.1:g.38799612C>T | GRCh37 |
| NC_000004.10:g.38476007C>T | NCBI36 |
| NG_016228.1:g.11801G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308979.7:c.841G>A MANE Select | ENSP00000354932.2:p.Val281Met | |
| ENST00000308979.6:c.841G>A | ENSP00000354932.2:p.Val281Met | |
| ENST00000502213.6:c.841G>A | ENSP00000421259.1:p.Val281Met | |
| ENST00000505744.5:n.235+2866G>A | ||
| NM_003263.3:c.841G>A | NP_003254.2:p.Val281Met | |
| XM_005262662.3:c.841G>A | XP_005262719.1:p.Val281Met | |
| XM_006714028.2:c.841G>A | XP_006714091.1:p.Val281Met | |
| XM_011513742.1:c.841G>A | XP_011512044.1:p.Val281Met | |
| XM_011513743.1:c.841G>A | XP_011512045.1:p.Val281Met | |
| XM_011513744.1:c.841G>A | XP_011512046.1:p.Val281Met | |
| XM_011513745.1:c.841G>A | XP_011512047.1:p.Val281Met | |
| XR_925162.1:n.1115G>A | ||
| XR_925163.1:n.1115G>A | ||
| XR_925165.1:n.1115G>A | ||
| XM_005262662.5:c.841G>A | XP_005262719.1:p.Val281Met | |
| XM_011513742.3:c.841G>A | XP_011512044.1:p.Val281Met | |
| XM_011513745.3:c.841G>A | XP_011512047.1:p.Val281Met | |
| XM_017008571.2:c.841G>A | XP_016864060.1:p.Val281Met | |
| XM_017008572.2:c.841G>A | XP_016864061.1:p.Val281Met | |
| XM_024454196.1:c.841G>A | XP_024309964.1:p.Val281Met | |
| XM_024454197.1:c.841G>A | XP_024309965.1:p.Val281Met | |
| XM_024454198.1:c.841G>A | XP_024309966.1:p.Val281Met | |
| XM_024454199.1:c.205+2866G>A | XP_024309967.1:n.205+2866G>A | |
| XR_925163.2:n.1115G>A | ||
| XR_925165.2:n.1115G>A | ||
| NM_003263.4:c.841G>A MANE Select | NP_003254.2:p.Val281Met |