Linked Data
ClinVar Variation Id:
2052415
ClinVar RCV Id:
RCV002932718
dbSNP Id:
rs773274279
gnomAD v4:
17-7224168-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7224168G>T , CM000679.2:g.7224168G>T | GRCh38 |
| NC_000017.10:g.7127487G>T , CM000679.1:g.7127487G>T | GRCh37 |
| NC_000017.9:g.7068211G>T | NCBI36 |
| NG_007975.1:g.9335G>T | |
| NG_008391.2:g.883C>A | |
| NG_033038.1:g.15377C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1457G>T MANE Select | ENSP00000349297.5:p.Gly486Val | |
| ENST00000322910.9:c.*1412G>T | ENSP00000325395.5:n.*1412G>T | |
| ENST00000350303.9:c.1391G>T | ENSP00000344152.5:p.Gly464Val | |
| ENST00000356839.9:c.1457G>T | ENSP00000349297.5:p.Gly486Val | |
| ENST00000542255.6:c.315G>T | ||
| ENST00000543245.6:c.1526G>T | ENSP00000438689.2:p.Gly509Val | |
| ENST00000578711.1:n.664G>T | ||
| ENST00000579391.1:n.65G>T | ||
| ENST00000579425.5:n.573G>T | ||
| ENST00000579546.1:c.271+99G>T | ||
| ENST00000579894.5:n.244G>T | ||
| ENST00000583074.5:n.153+99G>T | ||
| ENST00000583850.5:n.232G>T | ||
| ENST00000583858.5:c.463+99G>T | ||
| ENST00000585203.6:n.648G>T | ||
| NM_000018.3:c.1457G>T | NP_000009.1:p.Gly486Val | |
| NM_001033859.2:c.1391G>T | NP_001029031.1:p.Gly464Val | |
| NM_001270447.1:c.1526G>T | NP_001257376.1:p.Gly509Val | |
| NM_001270448.1:c.1229G>T | NP_001257377.1:p.Gly410Val | |
| XM_006721516.2:c.1457G>T | XP_006721579.2:p.Gly486Val | |
| XM_011523829.1:c.1434+99G>T | XP_011522131.1:n.1434+99G>T | |
| XM_011523830.1:c.1434+99G>T | XP_011522132.1:n.1434+99G>T | |
| XR_934021.1:n.1564G>T | ||
| XR_934022.1:n.1541+99G>T | ||
| XR_934023.1:n.1541+99G>T | ||
| XM_006721516.3:c.1457G>T | XP_006721579.2:p.Gly486Val | |
| XM_011523829.2:c.1434+99G>T | XP_011522131.1:n.1434+99G>T | |
| XM_011523830.2:c.1434+99G>T | XP_011522132.1:n.1434+99G>T | |
| XM_024450741.1:c.1434+99G>T | XP_024306509.1:n.1434+99G>T | |
| XR_934021.2:n.1516G>T | ||
| XR_934022.2:n.1493+99G>T | ||
| XR_934023.2:n.1493+99G>T | ||
| NM_000018.4:c.1457G>T MANE Select | NP_000009.1:p.Gly486Val | |
| NM_001033859.3:c.1391G>T | NP_001029031.1:p.Gly464Val | |
| NM_001270447.2:c.1526G>T | NP_001257376.1:p.Gly509Val | |
| NM_001270448.2:c.1229G>T | NP_001257377.1:p.Gly410Val |