Linked Data
ClinVar Variation Id:
2574607
ClinVar RCV Id:
RCV003319155
dbSNP Id:
rs1803407825
gnomAD v4:
7-143351630-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143351630G>A , CM000669.2:g.143351630G>A | GRCh38 |
| NC_000007.13:g.143048723G>A , CM000669.1:g.143048723G>A | GRCh37 |
| NC_000007.12:g.142758845G>A | NCBI36 |
| NG_009815.1:g.40505G>A | |
| NG_009815.2:g.40505G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.2632G>A | ENSP00000498052.2:p.Val878Met | |
| ENST00000343257.7:c.2632G>A MANE Select | ENSP00000339867.2:p.Val878Met | |
| ENST00000432192.6:c.2456G>A | ||
| ENST00000343257.6:c.2632G>A | ENSP00000339867.2:p.Val878Met | |
| NM_000083.2:c.2632G>A | NP_000074.2:p.Val878Met | |
| NR_046453.1:n.2572G>A | ||
| XM_011515781.1:c.2656G>A | XP_011514083.1:p.Val886Met | |
| XM_011515782.1:c.1378G>A | XP_011514084.1:p.Val460Met | |
| XM_011515782.2:c.1378G>A | XP_011514084.1:p.Val460Met | |
| XM_017011739.1:c.2206G>A | XP_016867228.1:p.Val736Met | |
| XM_017011740.1:c.2182G>A | XP_016867229.1:p.Val728Met | |
| NM_000083.3:c.2632G>A MANE Select | NP_000074.3:p.Val878Met | |
| NR_046453.2:n.2587G>A |