Linked Data
ClinVar Variation Id:
520442
dbSNP Id:
rs371020228
ExAC:
6:7585804 A / G
gnomAD v2:
6-7585804-A-G
gnomAD v3:
6-7585571-A-G
gnomAD v4:
6-7585571-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.7585571A>G , CM000668.2:g.7585571A>G | GRCh38 |
| NC_000006.11:g.7585804A>G , CM000668.1:g.7585804A>G | GRCh37 |
| NC_000006.10:g.7530803A>G | NCBI36 |
| NG_008803.1:g.48935A>G , LRG_423:g.48935A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000710359.1:c.6980A>G | ENSP00000518230.1:p.Tyr2327Cys | |
| ENST00000379802.8:c.8309A>G MANE Select | ENSP00000369129.3:p.Tyr2770Cys | |
| ENST00000379802.7:c.8309A>G | ENSP00000369129.3:p.Tyr2770Cys | |
| ENST00000418664.2:c.6512A>G | ENSP00000396591.2:p.Tyr2171Cys | |
| NM_001008844.1:c.6512A>G | NP_001008844.1:p.Tyr2171Cys | |
| NM_004415.2:c.8309A>G , LRG_423t1:c.8309A>G | NP_004406.2:p.Tyr2770Cys | |
| XM_011514323.1:c.6980A>G | XP_011512625.1:p.Tyr2327Cys | |
| NM_001008844.2:c.6512A>G | NP_001008844.1:p.Tyr2171Cys | |
| NM_001319034.1:c.6980A>G | NP_001305963.1:p.Tyr2327Cys | |
| NM_004415.3:c.8309A>G | NP_004406.2:p.Tyr2770Cys | |
| NM_004415.4:c.8309A>G MANE Select | NP_004406.2:p.Tyr2770Cys | |
| NM_001008844.3:c.6512A>G | NP_001008844.1:p.Tyr2171Cys | |
| NM_001319034.2:c.6980A>G | NP_001305963.1:p.Tyr2327Cys |