Linked Data
ClinVar Variation Id:
497483
dbSNP Id:
rs143406263
ExAC:
7:42006131 C / T
gnomAD v2:
7-42006131-C-T
gnomAD v3:
7-41966533-C-T
gnomAD v4:
7-41966533-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.41966533C>T , CM000669.2:g.41966533C>T | GRCh38 |
| NC_000007.13:g.42006131C>T , CM000669.1:g.42006131C>T | GRCh37 |
| NC_000007.12:g.41972656C>T | NCBI36 |
| NG_008434.1:g.275488G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395925.8:c.2540G>A MANE Select | ENSP00000379258.3:p.Arg847Lys | |
| ENST00000677288.1:c.2366G>A | ENSP00000503986.1:p.Arg789Lys | |
| ENST00000677605.1:c.2540G>A | ENSP00000503743.1:p.Arg847Lys | |
| ENST00000678429.1:c.2540G>A | ENSP00000502957.1:p.Arg847Lys | |
| ENST00000395925.7:c.2540G>A | ENSP00000379258.3:p.Arg847Lys | |
| ENST00000479210.1:n.2517G>A | ||
| NM_000168.5:c.2540G>A | NP_000159.3:p.Arg847Lys | |
| XM_005249703.1:c.2540G>A | XP_005249760.1:p.Arg847Lys | |
| XM_005249704.2:c.2540G>A | XP_005249761.1:p.Arg847Lys | |
| XM_011515272.1:c.2540G>A | XP_011513574.1:p.Arg847Lys | |
| XM_011515273.1:c.2540G>A | XP_011513575.1:p.Arg847Lys | |
| XM_011515274.1:c.2363G>A | XP_011513576.1:p.Arg788Lys | |
| XM_011515274.2:c.2363G>A | XP_011513576.1:p.Arg788Lys | |
| XM_017011997.1:c.2537G>A | XP_016867486.1:p.Arg846Lys | |
| NM_000168.6:c.2540G>A MANE Select | NP_000159.3:p.Arg847Lys |