Linked Data
ClinVar Variation Id:
540329
dbSNP Id:
rs139008774
ExAC:
8:133650311 A / G
gnomAD v2:
8-133650311-A-G
gnomAD v3:
8-132638065-A-G
gnomAD v4:
8-132638065-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.132638065A>G , CM000670.2:g.132638065A>G | GRCh38 |
| NC_000008.10:g.133650311A>G , CM000670.1:g.133650311A>G | GRCh37 |
| NC_000008.9:g.133719493A>G | NCBI36 |
| NG_033068.1:g.42553T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000620350.5:c.299T>C MANE Select | ENSP00000484634.1:p.Ile100Thr | |
| ENST00000250173.5:c.299T>C | ENSP00000250173.2:p.Ile100Thr | |
| ENST00000518642.5:c.299T>C | ENSP00000428610.1:p.Ile100Thr | |
| ENST00000519595.5:c.299T>C | ENSP00000429791.1:p.Ile100Thr | |
| ENST00000520446.5:n.398T>C | ||
| ENST00000521430.5:n.541T>C | ||
| ENST00000522584.5:c.*133T>C | ENSP00000429811.1:n.*133T>C | |
| ENST00000523503.1:n.285T>C | ||
| ENST00000618342.1:c.299T>C | ENSP00000484802.1:p.Ile100Thr | |
| ENST00000620350.4:c.299T>C | ENSP00000484634.1:p.Ile100Thr | |
| NM_012472.4:c.299T>C | NP_036604.2:p.Ile100Thr | |
| NR_073525.1:n.423T>C | ||
| XM_006716538.2:c.317T>C | XP_006716601.2:p.Ile106Thr | |
| XM_011516950.1:c.317T>C | XP_011515252.1:p.Ile106Thr | |
| XM_011516951.1:c.317T>C | XP_011515253.1:p.Ile106Thr | |
| XM_011516952.1:c.53T>C | XP_011515254.1:p.Ile18Thr | |
| XM_011516953.1:c.-62T>C | XP_011515255.1:n.-62T>C | |
| XM_011516954.1:c.-62T>C | XP_011515256.1:n.-62T>C | |
| XR_428377.2:n.442T>C | ||
| NM_001321961.1:c.299T>C | NP_001308890.1:p.Ile100Thr | |
| NM_001321962.1:c.53T>C | NP_001308891.1:p.Ile18Thr | |
| NM_001321963.1:c.-62T>C | NP_001308892.1:n.-62T>C | |
| NM_001321964.1:c.-62T>C | NP_001308893.1:n.-62T>C | |
| NM_001321965.1:c.-62T>C | NP_001308894.1:n.-62T>C | |
| NM_001321966.1:c.-62T>C | NP_001308895.1:n.-62T>C | |
| NM_012472.5:c.299T>C | NP_036604.2:p.Ile100Thr | |
| NR_073525.2:n.423T>C | ||
| NR_135905.1:n.736T>C | ||
| NR_135906.1:n.177T>C | ||
| NR_135907.1:n.423T>C | ||
| NR_135908.1:n.177T>C | ||
| NR_135909.1:n.541T>C | ||
| NR_135910.1:n.848T>C | ||
| NR_135911.1:n.927T>C | ||
| NR_135912.1:n.1486T>C | ||
| NR_135913.1:n.1173T>C | ||
| XM_006716538.3:c.317T>C | XP_006716601.2:p.Ile106Thr | |
| XM_011516950.2:c.317T>C | XP_011515252.1:p.Ile106Thr | |
| XM_017013296.1:c.197T>C | XP_016868785.1:p.Ile66Thr | |
| XM_017013297.1:c.-62T>C | XP_016868786.1:n.-62T>C | |
| XM_017013298.1:c.-62T>C | XP_016868787.1:n.-62T>C | |
| NM_012472.6:c.299T>C MANE Select | NP_036604.2:p.Ile100Thr | |
| NM_001321961.2:c.299T>C | NP_001308890.1:p.Ile100Thr | |
| NM_001321962.2:c.53T>C | NP_001308891.1:p.Ile18Thr | |
| NM_001321963.2:c.-62T>C | NP_001308892.1:n.-62T>C | |
| NM_001321964.2:c.-62T>C | NP_001308893.1:n.-62T>C | |
| NM_001321965.2:c.-62T>C | NP_001308894.1:n.-62T>C | |
| NM_001321966.2:c.-62T>C | NP_001308895.1:n.-62T>C | |
| NR_073525.3:n.351T>C | ||
| NR_135905.2:n.664T>C | ||
| NR_135906.2:n.105T>C | ||
| NR_135907.2:n.351T>C | ||
| NR_135908.2:n.105T>C | ||
| NR_135909.2:n.561T>C | ||
| NR_135910.2:n.911T>C | ||
| NR_135911.2:n.1031T>C | ||
| NR_135912.2:n.1590T>C | ||
| NR_135913.2:n.1277T>C |