Linked Data
ClinVar Variation Id:
2925425
ClinVar RCV Id:
RCV003781079
dbSNP Id:
rs777685454
gnomAD v2:
7-143039045-G-C
gnomAD v3:
7-143341952-G-C
gnomAD v4:
7-143341952-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143341952G>C , CM000669.2:g.143341952G>C | GRCh38 |
| NC_000007.13:g.143039045G>C , CM000669.1:g.143039045G>C | GRCh37 |
| NC_000007.12:g.142749167G>C | NCBI36 |
| NG_009815.1:g.30827G>C | |
| NG_009815.2:g.30827G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.1606G>C | ENSP00000498052.2:p.Val536Leu | |
| ENST00000343257.7:c.1606G>C MANE Select | ENSP00000339867.2:p.Val536Leu | |
| ENST00000432192.6:c.1430G>C | ||
| ENST00000343257.6:c.1606G>C | ENSP00000339867.2:p.Val536Leu | |
| NM_000083.2:c.1606G>C | NP_000074.2:p.Val536Leu | |
| NR_046453.1:n.1546G>C | ||
| XM_011515781.1:c.1630G>C | XP_011514083.1:p.Val544Leu | |
| XM_011515782.1:c.352G>C | XP_011514084.1:p.Val118Leu | |
| XM_011515782.2:c.352G>C | XP_011514084.1:p.Val118Leu | |
| XM_017011739.1:c.1180G>C | XP_016867228.1:p.Val394Leu | |
| XM_017011740.1:c.1156G>C | XP_016867229.1:p.Val386Leu | |
| NM_000083.3:c.1606G>C MANE Select | NP_000074.3:p.Val536Leu | |
| NR_046453.2:n.1561G>C |