Linked Data
dbSNP Id:
rs12133337
gnomAD v2:
1-167452690-T-C
gnomAD v3:
1-167483453-T-C
gnomAD v4:
1-167483453-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.167483453T>C , CM000663.2:g.167483453T>C | GRCh38 |
| NC_000001.10:g.167452690T>C , CM000663.1:g.167452690T>C | GRCh37 |
| NC_000001.9:g.165719314T>C | NCBI36 |
| NG_007384.1:g.40157A>G , LRG_36:g.40157A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000392122.4:c.58+34955A>G | ENSP00000375969.3:n.58+34955A>G | |
| ENST00000479979.2:n.131+34955A>G | ||
| ENST00000483825.6:n.122+34955A>G | ||
| ENST00000700105.1:c.58+34955A>G | ENSP00000514800.1:n.58+34955A>G | |
| ENST00000700106.1:c.-64+34955A>G | ENSP00000514802.1:n.-64+34955A>G | |
| ENST00000700107.1:c.-64+34955A>G | ENSP00000514803.1:n.-64+34955A>G | |
| ENST00000700108.1:c.-537+34955A>G | ENSP00000514804.1:n.-537+34955A>G | |
| ENST00000700109.1:c.-537+34955A>G | ENSP00000514805.1:n.-537+34955A>G | |
| ENST00000700111.1:n.122+34955A>G | ||
| ENST00000700113.1:c.*339+28230A>G | ENSP00000514838.1:n.*339+28230A>G | |
| ENST00000700134.1:c.58+34955A>G | ENSP00000514822.1:n.58+34955A>G | |
| ENST00000700139.1:n.183+34955A>G | ||
| ENST00000700140.1:n.143+34955A>G | ||
| ENST00000700141.1:n.143+34955A>G | ||
| ENST00000700142.1:c.58+34955A>G | ENSP00000514823.1:n.58+34955A>G | |
| ENST00000700159.1:c.58+34955A>G | ENSP00000514831.1:n.58+34955A>G | |
| ENST00000700160.1:c.-228+19857A>G | ENSP00000514832.1:n.-228+19857A>G | |
| ENST00000700165.1:c.58+34955A>G | ENSP00000514836.1:n.58+34955A>G | |
| ENST00000700167.1:c.58+34955A>G | ENSP00000514837.1:n.58+34955A>G | |
| ENST00000362089.10:c.58+34955A>G MANE Select | ENSP00000354782.5:n.58+34955A>G | |
| ENST00000362089.9:c.58+34955A>G | ENSP00000354782.5:n.58+34955A>G | |
| ENST00000392122.3:c.58+34955A>G | ENSP00000375969.3:n.58+34955A>G | |
| ENST00000479979.1:n.203+34955A>G | ||
| ENST00000483825.5:n.122+34955A>G | ||
| NM_000734.3:c.58+34955A>G | NP_000725.1:n.58+34955A>G | |
| NM_198053.2:c.58+34955A>G , LRG_36t1:c.58+34955A>G | NP_932170.1:n.58+34955A>G | |
| XM_011510144.1:c.-64+34955A>G | XP_011508446.1:n.-64+34955A>G | |
| XM_011510145.1:c.-64+34955A>G | XP_011508447.1:n.-64+34955A>G | |
| XR_922255.1:n.412-12292T>C | ||
| XM_011510144.2:c.-64+34955A>G | XP_011508446.1:n.-64+34955A>G | |
| XM_017002800.1:c.151+10511A>G | XP_016858289.1:n.151+10511A>G | |
| XM_017002801.1:c.151+10511A>G | XP_016858290.1:n.151+10511A>G | |
| NM_000734.4:c.58+34955A>G | NP_000725.1:n.58+34955A>G | |
| NM_001378515.1:c.151+10511A>G | NP_001365444.1:n.151+10511A>G | |
| NM_001378516.1:c.151+10511A>G | NP_001365445.1:n.151+10511A>G | |
| NM_198053.3:c.58+34955A>G MANE Select | NP_932170.1:n.58+34955A>G |