Linked Data
dbSNP Id:
rs755014554
ExAC:
8:133584616 T / C
gnomAD v2:
8-133584616-T-C
gnomAD v4:
8-132572368-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.132572368T>C , CM000670.2:g.132572368T>C | GRCh38 |
| NC_000008.10:g.133584616T>C , CM000670.1:g.133584616T>C | GRCh37 |
| NC_000008.9:g.133653798T>C | NCBI36 |
| NG_033068.1:g.108248A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000620350.5:c.1339A>G MANE Select | ENSP00000484634.1:p.Ile447Val | |
| ENST00000250173.5:c.*203A>G | ENSP00000250173.2:n.*203A>G | |
| ENST00000518642.5:c.*203A>G | ENSP00000428610.1:n.*203A>G | |
| ENST00000519595.5:c.1339A>G | ENSP00000429791.1:p.Ile447Val | |
| ENST00000522789.5:c.559A>G | ENSP00000428015.1:p.Ile187Val | |
| ENST00000618342.1:c.1339A>G | ENSP00000484802.1:p.Ile447Val | |
| ENST00000620350.4:c.1339A>G | ENSP00000484634.1:p.Ile447Val | |
| NM_012472.4:c.1339A>G | NP_036604.2:p.Ile447Val | |
| NR_073525.1:n.1563A>G | ||
| XM_006716538.2:c.1357A>G | XP_006716601.2:p.Ile453Val | |
| XM_011516950.1:c.1297A>G | XP_011515252.1:p.Ile433Val | |
| XM_011516952.1:c.1093A>G | XP_011515254.1:p.Ile365Val | |
| XM_011516953.1:c.979A>G | XP_011515255.1:p.Ile327Val | |
| XM_011516954.1:c.979A>G | XP_011515256.1:p.Ile327Val | |
| XR_428377.2:n.1591A>G | ||
| NM_001321961.1:c.1279A>G | NP_001308890.1:p.Ile427Val | |
| NM_001321962.1:c.1093A>G | NP_001308891.1:p.Ile365Val | |
| NM_001321963.1:c.979A>G | NP_001308892.1:p.Ile327Val | |
| NM_001321964.1:c.979A>G | NP_001308893.1:p.Ile327Val | |
| NM_001321965.1:c.979A>G | NP_001308894.1:p.Ile327Val | |
| NM_001321966.1:c.919A>G | NP_001308895.1:p.Ile307Val | |
| NM_012472.5:c.1339A>G | NP_036604.2:p.Ile447Val | |
| NR_073525.2:n.1563A>G | ||
| NR_135905.1:n.1552A>G | ||
| NR_135906.1:n.993A>G | ||
| NR_135907.1:n.1239A>G | ||
| NR_135908.1:n.933A>G | ||
| NR_135909.1:n.1357A>G | ||
| NR_135910.1:n.1664A>G | ||
| NR_135911.1:n.1743A>G | ||
| NR_135912.1:n.2302A>G | ||
| NR_135913.1:n.1989A>G | ||
| XM_006716538.3:c.1357A>G | XP_006716601.2:p.Ile453Val | |
| XM_011516950.2:c.1297A>G | XP_011515252.1:p.Ile433Val | |
| XM_017013296.1:c.1237A>G | XP_016868785.1:p.Ile413Val | |
| XM_017013297.1:c.979A>G | XP_016868786.1:p.Ile327Val | |
| XM_017013298.1:c.979A>G | XP_016868787.1:p.Ile327Val | |
| NM_012472.6:c.1339A>G MANE Select | NP_036604.2:p.Ile447Val | |
| NM_001321961.2:c.1279A>G | NP_001308890.1:p.Ile427Val | |
| NM_001321962.2:c.1093A>G | NP_001308891.1:p.Ile365Val | |
| NM_001321963.2:c.979A>G | NP_001308892.1:p.Ile327Val | |
| NM_001321964.2:c.979A>G | NP_001308893.1:p.Ile327Val | |
| NM_001321965.2:c.979A>G | NP_001308894.1:p.Ile327Val | |
| NM_001321966.2:c.919A>G | NP_001308895.1:p.Ile307Val | |
| NR_073525.3:n.1491A>G | ||
| NR_135905.2:n.1480A>G | ||
| NR_135906.2:n.921A>G | ||
| NR_135907.2:n.1167A>G | ||
| NR_135908.2:n.861A>G | ||
| NR_135909.2:n.1377A>G | ||
| NR_135910.2:n.1727A>G | ||
| NR_135911.2:n.1847A>G | ||
| NR_135912.2:n.2406A>G | ||
| NR_135913.2:n.2093A>G |