Linked Data
ClinVar Variation Id:
260272
dbSNP Id:
rs78620801
ExAC:
8:133584612 A / G
gnomAD v2:
8-133584612-A-G
gnomAD v3:
8-132572364-A-G
gnomAD v4:
8-132572364-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.132572364A>G , CM000670.2:g.132572364A>G | GRCh38 |
| NC_000008.10:g.133584612A>G , CM000670.1:g.133584612A>G | GRCh37 |
| NC_000008.9:g.133653794A>G | NCBI36 |
| NG_033068.1:g.108252T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000620350.5:c.1343T>C MANE Select | ENSP00000484634.1:p.Ile448Thr | |
| ENST00000250173.5:c.*207T>C | ENSP00000250173.2:n.*207T>C | |
| ENST00000518642.5:c.*207T>C | ENSP00000428610.1:n.*207T>C | |
| ENST00000519595.5:c.1343T>C | ENSP00000429791.1:p.Ile448Thr | |
| ENST00000522789.5:c.563T>C | ENSP00000428015.1:p.Ile188Thr | |
| ENST00000618342.1:c.1343T>C | ENSP00000484802.1:p.Ile448Thr | |
| ENST00000620350.4:c.1343T>C | ENSP00000484634.1:p.Ile448Thr | |
| NM_012472.4:c.1343T>C | NP_036604.2:p.Ile448Thr | |
| NR_073525.1:n.1567T>C | ||
| XM_006716538.2:c.1361T>C | XP_006716601.2:p.Ile454Thr | |
| XM_011516950.1:c.1301T>C | XP_011515252.1:p.Ile434Thr | |
| XM_011516952.1:c.1097T>C | XP_011515254.1:p.Ile366Thr | |
| XM_011516953.1:c.983T>C | XP_011515255.1:p.Ile328Thr | |
| XM_011516954.1:c.983T>C | XP_011515256.1:p.Ile328Thr | |
| XR_428377.2:n.1595T>C | ||
| NM_001321961.1:c.1283T>C | NP_001308890.1:p.Ile428Thr | |
| NM_001321962.1:c.1097T>C | NP_001308891.1:p.Ile366Thr | |
| NM_001321963.1:c.983T>C | NP_001308892.1:p.Ile328Thr | |
| NM_001321964.1:c.983T>C | NP_001308893.1:p.Ile328Thr | |
| NM_001321965.1:c.983T>C | NP_001308894.1:p.Ile328Thr | |
| NM_001321966.1:c.923T>C | NP_001308895.1:p.Ile308Thr | |
| NM_012472.5:c.1343T>C | NP_036604.2:p.Ile448Thr | |
| NR_073525.2:n.1567T>C | ||
| NR_135905.1:n.1556T>C | ||
| NR_135906.1:n.997T>C | ||
| NR_135907.1:n.1243T>C | ||
| NR_135908.1:n.937T>C | ||
| NR_135909.1:n.1361T>C | ||
| NR_135910.1:n.1668T>C | ||
| NR_135911.1:n.1747T>C | ||
| NR_135912.1:n.2306T>C | ||
| NR_135913.1:n.1993T>C | ||
| XM_006716538.3:c.1361T>C | XP_006716601.2:p.Ile454Thr | |
| XM_011516950.2:c.1301T>C | XP_011515252.1:p.Ile434Thr | |
| XM_017013296.1:c.1241T>C | XP_016868785.1:p.Ile414Thr | |
| XM_017013297.1:c.983T>C | XP_016868786.1:p.Ile328Thr | |
| XM_017013298.1:c.983T>C | XP_016868787.1:p.Ile328Thr | |
| NM_012472.6:c.1343T>C MANE Select | NP_036604.2:p.Ile448Thr | |
| NM_001321961.2:c.1283T>C | NP_001308890.1:p.Ile428Thr | |
| NM_001321962.2:c.1097T>C | NP_001308891.1:p.Ile366Thr | |
| NM_001321963.2:c.983T>C | NP_001308892.1:p.Ile328Thr | |
| NM_001321964.2:c.983T>C | NP_001308893.1:p.Ile328Thr | |
| NM_001321965.2:c.983T>C | NP_001308894.1:p.Ile328Thr | |
| NM_001321966.2:c.923T>C | NP_001308895.1:p.Ile308Thr | |
| NR_073525.3:n.1495T>C | ||
| NR_135905.2:n.1484T>C | ||
| NR_135906.2:n.925T>C | ||
| NR_135907.2:n.1171T>C | ||
| NR_135908.2:n.865T>C | ||
| NR_135909.2:n.1381T>C | ||
| NR_135910.2:n.1731T>C | ||
| NR_135911.2:n.1851T>C | ||
| NR_135912.2:n.2410T>C | ||
| NR_135913.2:n.2097T>C |