Linked Data
dbSNP Id:
rs780052431
ExAC:
8:133584526 T / C
gnomAD v2:
8-133584526-T-C
gnomAD v3:
8-132572278-T-C
gnomAD v4:
8-132572278-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.132572278T>C , CM000670.2:g.132572278T>C | GRCh38 |
| NC_000008.10:g.133584526T>C , CM000670.1:g.133584526T>C | GRCh37 |
| NC_000008.9:g.133653708T>C | NCBI36 |
| NG_033068.1:g.108338A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000620350.5:c.*28A>G MANE Select | ENSP00000484634.1:n.*28A>G | |
| ENST00000250173.5:c.*293A>G | ENSP00000250173.2:n.*293A>G | |
| ENST00000518642.5:c.*293A>G | ENSP00000428610.1:n.*293A>G | |
| ENST00000519595.5:c.*28A>G | ENSP00000429791.1:n.*28A>G | |
| ENST00000522789.5:c.649A>G | ENSP00000428015.1:n.649A>G | |
| ENST00000618342.1:c.1429A>G | ENSP00000484802.1:n.1429A>G | |
| ENST00000620350.4:c.*28A>G | ENSP00000484634.1:n.*28A>G | |
| NM_012472.4:c.*28A>G | NP_036604.2:n.*28A>G | |
| NR_073525.1:n.1653A>G | ||
| XM_006716538.2:c.*28A>G | XP_006716601.2:n.*28A>G | |
| XM_011516950.1:c.*28A>G | XP_011515252.1:n.*28A>G | |
| XM_011516952.1:c.*28A>G | XP_011515254.1:n.*28A>G | |
| XM_011516953.1:c.*28A>G | XP_011515255.1:n.*28A>G | |
| XM_011516954.1:c.*28A>G | XP_011515256.1:n.*28A>G | |
| XR_428377.2:n.1681A>G | ||
| NM_001321961.1:c.*28A>G | NP_001308890.1:n.*28A>G | |
| NM_001321962.1:c.*28A>G | NP_001308891.1:n.*28A>G | |
| NM_001321963.1:c.*28A>G | NP_001308892.1:n.*28A>G | |
| NM_001321964.1:c.*28A>G | NP_001308893.1:n.*28A>G | |
| NM_001321965.1:c.*28A>G | NP_001308894.1:n.*28A>G | |
| NM_001321966.1:c.*28A>G | NP_001308895.1:n.*28A>G | |
| NM_012472.5:c.*28A>G | NP_036604.2:n.*28A>G | |
| NR_073525.2:n.1653A>G | ||
| NR_135905.1:n.1642A>G | ||
| NR_135906.1:n.1083A>G | ||
| NR_135907.1:n.1329A>G | ||
| NR_135908.1:n.1023A>G | ||
| NR_135909.1:n.1447A>G | ||
| NR_135910.1:n.1754A>G | ||
| NR_135911.1:n.1833A>G | ||
| NR_135912.1:n.2392A>G | ||
| NR_135913.1:n.2079A>G | ||
| XM_006716538.3:c.*28A>G | XP_006716601.2:n.*28A>G | |
| XM_011516950.2:c.*28A>G | XP_011515252.1:n.*28A>G | |
| XM_017013296.1:c.*28A>G | XP_016868785.1:n.*28A>G | |
| XM_017013297.1:c.*28A>G | XP_016868786.1:n.*28A>G | |
| XM_017013298.1:c.*28A>G | XP_016868787.1:n.*28A>G | |
| NM_012472.6:c.*28A>G MANE Select | NP_036604.2:n.*28A>G | |
| NM_001321961.2:c.*28A>G | NP_001308890.1:n.*28A>G | |
| NM_001321962.2:c.*28A>G | NP_001308891.1:n.*28A>G | |
| NM_001321963.2:c.*28A>G | NP_001308892.1:n.*28A>G | |
| NM_001321964.2:c.*28A>G | NP_001308893.1:n.*28A>G | |
| NM_001321965.2:c.*28A>G | NP_001308894.1:n.*28A>G | |
| NM_001321966.2:c.*28A>G | NP_001308895.1:n.*28A>G | |
| NR_073525.3:n.1581A>G | ||
| NR_135905.2:n.1570A>G | ||
| NR_135906.2:n.1011A>G | ||
| NR_135907.2:n.1257A>G | ||
| NR_135908.2:n.951A>G | ||
| NR_135909.2:n.1467A>G | ||
| NR_135910.2:n.1817A>G | ||
| NR_135911.2:n.1937A>G | ||
| NR_135912.2:n.2496A>G | ||
| NR_135913.2:n.2183A>G |