Linked Data
ClinVar Variation Id:
2146561
dbSNP Id:
rs200536855
gnomAD v2:
7-143039214-A-G
gnomAD v3:
7-143342121-A-G
gnomAD v4:
7-143342121-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143342121A>G , CM000669.2:g.143342121A>G | GRCh38 |
| NC_000007.13:g.143039214A>G , CM000669.1:g.143039214A>G | GRCh37 |
| NC_000007.12:g.142749336A>G | NCBI36 |
| NG_009815.1:g.30996A>G | |
| NG_009815.2:g.30996A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.1775A>G | ENSP00000498052.2:p.Asp592Gly | |
| ENST00000343257.7:c.1775A>G MANE Select | ENSP00000339867.2:p.Asp592Gly | |
| ENST00000432192.6:c.1599A>G | ||
| ENST00000343257.6:c.1775A>G | ENSP00000339867.2:p.Asp592Gly | |
| NM_000083.2:c.1775A>G | NP_000074.2:p.Asp592Gly | |
| NR_046453.1:n.1715A>G | ||
| XM_011515781.1:c.1799A>G | XP_011514083.1:p.Asp600Gly | |
| XM_011515782.1:c.521A>G | XP_011514084.1:p.Asp174Gly | |
| XM_011515782.2:c.521A>G | XP_011514084.1:p.Asp174Gly | |
| XM_017011739.1:c.1349A>G | XP_016867228.1:p.Asp450Gly | |
| XM_017011740.1:c.1325A>G | XP_016867229.1:p.Asp442Gly | |
| NM_000083.3:c.1775A>G MANE Select | NP_000074.3:p.Asp592Gly | |
| NR_046453.2:n.1730A>G |