Linked Data
dbSNP Id:
rs567702900
gnomAD v2:
8-133584415-A-G
gnomAD v3:
8-132572167-A-G
gnomAD v4:
8-132572167-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.132572167A>G , CM000670.2:g.132572167A>G | GRCh38 |
| NC_000008.10:g.133584415A>G , CM000670.1:g.133584415A>G | GRCh37 |
| NC_000008.9:g.133653597A>G | NCBI36 |
| NG_033068.1:g.108449T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000620350.5:c.*139T>C MANE Select | ENSP00000484634.1:n.*139T>C | |
| ENST00000519595.5:c.*139T>C | ENSP00000429791.1:n.*139T>C | |
| ENST00000618342.1:c.1540T>C | ENSP00000484802.1:n.1540T>C | |
| ENST00000620350.4:c.*139T>C | ENSP00000484634.1:n.*139T>C | |
| NM_012472.4:c.*139T>C | NP_036604.2:n.*139T>C | |
| NR_073525.1:n.1764T>C | ||
| XM_006716538.2:c.*139T>C | XP_006716601.2:n.*139T>C | |
| XM_011516950.1:c.*139T>C | XP_011515252.1:n.*139T>C | |
| XM_011516952.1:c.*139T>C | XP_011515254.1:n.*139T>C | |
| XM_011516953.1:c.*139T>C | XP_011515255.1:n.*139T>C | |
| XM_011516954.1:c.*139T>C | XP_011515256.1:n.*139T>C | |
| XR_428377.2:n.1792T>C | ||
| NM_001321961.1:c.*139T>C | NP_001308890.1:n.*139T>C | |
| NM_001321962.1:c.*139T>C | NP_001308891.1:n.*139T>C | |
| NM_001321963.1:c.*139T>C | NP_001308892.1:n.*139T>C | |
| NM_001321964.1:c.*139T>C | NP_001308893.1:n.*139T>C | |
| NM_001321965.1:c.*139T>C | NP_001308894.1:n.*139T>C | |
| NM_001321966.1:c.*139T>C | NP_001308895.1:n.*139T>C | |
| NM_012472.5:c.*139T>C | NP_036604.2:n.*139T>C | |
| NR_073525.2:n.1764T>C | ||
| NR_135905.1:n.1753T>C | ||
| NR_135906.1:n.1194T>C | ||
| NR_135907.1:n.1440T>C | ||
| NR_135908.1:n.1134T>C | ||
| NR_135909.1:n.1558T>C | ||
| NR_135910.1:n.1865T>C | ||
| NR_135911.1:n.1944T>C | ||
| NR_135912.1:n.2503T>C | ||
| NR_135913.1:n.2190T>C | ||
| XM_006716538.3:c.*139T>C | XP_006716601.2:n.*139T>C | |
| XM_011516950.2:c.*139T>C | XP_011515252.1:n.*139T>C | |
| XM_017013296.1:c.*139T>C | XP_016868785.1:n.*139T>C | |
| XM_017013297.1:c.*139T>C | XP_016868786.1:n.*139T>C | |
| XM_017013298.1:c.*139T>C | XP_016868787.1:n.*139T>C | |
| NM_012472.6:c.*139T>C MANE Select | NP_036604.2:n.*139T>C | |
| NM_001321961.2:c.*139T>C | NP_001308890.1:n.*139T>C | |
| NM_001321962.2:c.*139T>C | NP_001308891.1:n.*139T>C | |
| NM_001321963.2:c.*139T>C | NP_001308892.1:n.*139T>C | |
| NM_001321964.2:c.*139T>C | NP_001308893.1:n.*139T>C | |
| NM_001321965.2:c.*139T>C | NP_001308894.1:n.*139T>C | |
| NM_001321966.2:c.*139T>C | NP_001308895.1:n.*139T>C | |
| NR_073525.3:n.1692T>C | ||
| NR_135905.2:n.1681T>C | ||
| NR_135906.2:n.1122T>C | ||
| NR_135907.2:n.1368T>C | ||
| NR_135908.2:n.1062T>C | ||
| NR_135909.2:n.1578T>C | ||
| NR_135910.2:n.1928T>C | ||
| NR_135911.2:n.2048T>C | ||
| NR_135912.2:n.2607T>C | ||
| NR_135913.2:n.2294T>C |