Linked Data
ClinVar Variation Id:
473109
dbSNP Id:
rs146067670
ExAC:
8:133627309 T / C
gnomAD v2:
8-133627309-T-C
gnomAD v3:
8-132615063-T-C
gnomAD v4:
8-132615063-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.132615063T>C , CM000670.2:g.132615063T>C | GRCh38 |
| NC_000008.10:g.133627309T>C , CM000670.1:g.133627309T>C | GRCh37 |
| NC_000008.9:g.133696491T>C | NCBI36 |
| NG_033068.1:g.65555A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000620350.5:c.949A>G MANE Select | ENSP00000484634.1:p.Ile317Val | |
| ENST00000250173.5:c.949A>G | ENSP00000250173.2:p.Ile317Val | |
| ENST00000518642.5:c.949A>G | ENSP00000428610.1:p.Ile317Val | |
| ENST00000519085.5:c.113A>G | ||
| ENST00000519595.5:c.949A>G | ENSP00000429791.1:p.Ile317Val | |
| ENST00000522597.1:n.218A>G | ||
| ENST00000522789.5:c.195-3700A>G | ENSP00000428015.1:n.195-3700A>G | |
| ENST00000618342.1:c.949A>G | ENSP00000484802.1:p.Ile317Val | |
| ENST00000620350.4:c.949A>G | ENSP00000484634.1:p.Ile317Val | |
| NM_012472.4:c.949A>G | NP_036604.2:p.Ile317Val | |
| NR_073525.1:n.1073A>G | ||
| XM_006716538.2:c.967A>G | XP_006716601.2:p.Ile323Val | |
| XM_011516950.1:c.933-3700A>G | XP_011515252.1:n.933-3700A>G | |
| XM_011516951.1:c.967A>G | XP_011515253.1:p.Ile323Val | |
| XM_011516952.1:c.703A>G | XP_011515254.1:p.Ile235Val | |
| XM_011516953.1:c.589A>G | XP_011515255.1:p.Ile197Val | |
| XM_011516954.1:c.589A>G | XP_011515256.1:p.Ile197Val | |
| XR_428377.2:n.1092A>G | ||
| NM_001321961.1:c.915-3700A>G | NP_001308890.1:n.915-3700A>G | |
| NM_001321962.1:c.703A>G | NP_001308891.1:p.Ile235Val | |
| NM_001321963.1:c.589A>G | NP_001308892.1:p.Ile197Val | |
| NM_001321964.1:c.589A>G | NP_001308893.1:p.Ile197Val | |
| NM_001321965.1:c.589A>G | NP_001308894.1:p.Ile197Val | |
| NM_001321966.1:c.555-3700A>G | NP_001308895.1:n.555-3700A>G | |
| NM_012472.5:c.949A>G | NP_036604.2:p.Ile317Val | |
| NR_073525.2:n.1073A>G | ||
| NR_135905.1:n.1162A>G | ||
| NR_135906.1:n.603A>G | ||
| NR_135907.1:n.849A>G | ||
| NR_135908.1:n.569-3700A>G | ||
| NR_135909.1:n.967A>G | ||
| NR_135910.1:n.1274A>G | ||
| NR_135911.1:n.1353A>G | ||
| NR_135912.1:n.1912A>G | ||
| NR_135913.1:n.1599A>G | ||
| XM_006716538.3:c.967A>G | XP_006716601.2:p.Ile323Val | |
| XM_011516950.2:c.933-3700A>G | XP_011515252.1:n.933-3700A>G | |
| XM_017013296.1:c.847A>G | XP_016868785.1:p.Ile283Val | |
| XM_017013297.1:c.589A>G | XP_016868786.1:p.Ile197Val | |
| XM_017013298.1:c.589A>G | XP_016868787.1:p.Ile197Val | |
| NM_012472.6:c.949A>G MANE Select | NP_036604.2:p.Ile317Val | |
| NM_001321961.2:c.915-3700A>G | NP_001308890.1:n.915-3700A>G | |
| NM_001321962.2:c.703A>G | NP_001308891.1:p.Ile235Val | |
| NM_001321963.2:c.589A>G | NP_001308892.1:p.Ile197Val | |
| NM_001321964.2:c.589A>G | NP_001308893.1:p.Ile197Val | |
| NM_001321965.2:c.589A>G | NP_001308894.1:p.Ile197Val | |
| NM_001321966.2:c.555-3700A>G | NP_001308895.1:n.555-3700A>G | |
| NR_073525.3:n.1001A>G | ||
| NR_135905.2:n.1090A>G | ||
| NR_135906.2:n.531A>G | ||
| NR_135907.2:n.777A>G | ||
| NR_135908.2:n.497-3700A>G | ||
| NR_135909.2:n.987A>G | ||
| NR_135910.2:n.1337A>G | ||
| NR_135911.2:n.1457A>G | ||
| NR_135912.2:n.2016A>G | ||
| NR_135913.2:n.1703A>G |