Linked Data
ClinVar Variation Id:
12731
dbSNP Id:
rs121918662
gnomAD v2:
5-1279456-C-T
gnomAD v3:
5-1279341-C-T
gnomAD v4:
5-1279341-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1279341C>T , CM000667.2:g.1279341C>T | GRCh38 |
| NC_000005.9:g.1279456C>T , CM000667.1:g.1279456C>T | GRCh37 |
| NC_000005.8:g.1332456C>T | NCBI36 |
| NG_009265.1:g.20707G>A , LRG_343:g.20707G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000310581.10:c.2080G>A MANE Select | ENSP00000309572.5:p.Val694Met | |
| ENST00000656021.1:c.*1626G>A | ENSP00000499759.1:n.*1626G>A | |
| ENST00000310581.9:c.2080G>A | ENSP00000309572.5:p.Val694Met | |
| ENST00000334602.10:c.2080G>A | ENSP00000334346.6:p.Val694Met | |
| ENST00000460137.6:c.2080G>A | ENSP00000425003.1:p.Val694Met | |
| ENST00000484238.6:n.893G>A | ||
| ENST00000508104.2:c.2080G>A | ENSP00000426042.2:p.Val694Met | |
| NM_001193376.1:c.2080G>A | NP_001180305.1:p.Val694Met | |
| NM_198253.2:c.2080G>A , LRG_343t1:c.2080G>A | NP_937983.2:p.Val694Met | |
| XM_011514104.1:c.550G>A | XP_011512406.1:p.Val184Met | |
| XM_011514105.1:c.436G>A | XP_011512407.1:p.Val146Met | |
| XM_011514106.1:c.436G>A | XP_011512408.1:p.Val146Met | |
| NR_149162.1:n.2138G>A | ||
| NR_149163.1:n.2138G>A | ||
| NM_001193376.2:c.2080G>A | NP_001180305.1:p.Val694Met | |
| NM_198253.3:c.2080G>A MANE Select | NP_937983.2:p.Val694Met | |
| NR_149162.2:n.2159G>A | ||
| NR_149163.2:n.2159G>A | ||
| NM_001193376.3:c.2080G>A | NP_001180305.1:p.Val694Met | |
| NR_149162.3:n.2159G>A | ||
| NR_149163.3:n.2159G>A |