Linked Data
ClinVar Variation Id:
1133808
ClinVar RCV Id:
RCV001468542
dbSNP Id:
rs765869908
ExAC:
7:143048716 G / A
gnomAD v2:
7-143048716-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143351623G>A , CM000669.2:g.143351623G>A | GRCh38 |
| NC_000007.13:g.143048716G>A , CM000669.1:g.143048716G>A | GRCh37 |
| NC_000007.12:g.142758838G>A | NCBI36 |
| NG_009815.1:g.40498G>A | |
| NG_009815.2:g.40498G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.2625G>A | ENSP00000498052.2:p.Lys875= | |
| ENST00000343257.7:c.2625G>A MANE Select | ENSP00000339867.2:p.Lys875= | |
| ENST00000432192.6:c.2449G>A | ||
| ENST00000343257.6:c.2625G>A | ENSP00000339867.2:p.Lys875= | |
| NM_000083.2:c.2625G>A | NP_000074.2:p.Lys875= | |
| NR_046453.1:n.2565G>A | ||
| XM_011515781.1:c.2649G>A | XP_011514083.1:p.Lys883= | |
| XM_011515782.1:c.1371G>A | XP_011514084.1:p.Lys457= | |
| XM_011515782.2:c.1371G>A | XP_011514084.1:p.Lys457= | |
| XM_017011739.1:c.2199G>A | XP_016867228.1:p.Lys733= | |
| XM_017011740.1:c.2175G>A | XP_016867229.1:p.Lys725= | |
| NM_000083.3:c.2625G>A MANE Select | NP_000074.3:p.Lys875= | |
| NR_046453.2:n.2580G>A |