Linked Data
ClinVar Variation Id:
96569
ClinVar RCV Id:
RCV000082727
dbSNP Id:
rs398124566
gnomAD v4:
6-80343772-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.80343772T>G , CM000668.2:g.80343772T>G | GRCh38 |
| NC_000006.11:g.81053489T>G , CM000668.1:g.81053489T>G | GRCh37 |
| NC_000006.10:g.81110208T>G | NCBI36 |
| NG_009775.1:g.242146T>G | |
| NG_009775.2:g.242146T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320393.9:c.1147T>G MANE Select | ENSP00000318351.5:p.Tyr383Asp | |
| ENST00000320393.8:c.1147T>G | ENSP00000318351.5:p.Tyr383Asp | |
| ENST00000356489.9:c.1147T>G | ENSP00000348880.5:p.Tyr383Asp | |
| ENST00000491328.1:n.202T>G | ||
| NM_000056.3:c.1147T>G | NP_000047.1:p.Tyr383Asp | |
| NM_183050.2:c.1147T>G | NP_898871.1:p.Tyr383Asp | |
| XM_006715542.2:c.937T>G | XP_006715605.1:p.Tyr313Asp | |
| XM_011536024.1:c.*153T>G | XP_011534326.1:n.*153T>G | |
| XM_011536026.1:c.937T>G | XP_011534328.1:p.Tyr313Asp | |
| NM_000056.4:c.1147T>G | NP_000047.1:p.Tyr383Asp | |
| NM_001318975.1:c.937T>G | NP_001305904.1:p.Tyr313Asp | |
| NM_183050.3:c.1147T>G | NP_898871.1:p.Tyr383Asp | |
| NR_134945.1:n.1325T>G | ||
| XM_011536024.3:c.*153T>G | XP_011534326.1:n.*153T>G | |
| XR_001743546.2:n.1068+70551T>G | ||
| XR_001743547.2:n.1068+70551T>G | ||
| XR_001743548.2:n.1068+70551T>G | ||
| XR_001743549.2:n.1068+70551T>G | ||
| XR_002956292.1:n.1068+70551T>G | ||
| NM_183050.4:c.1147T>G MANE Select | NP_898871.1:p.Tyr383Asp | |
| NR_134945.2:n.1264T>G | ||
| NM_000056.5:c.1147T>G | NP_000047.1:p.Tyr383Asp |