Linked Data
dbSNP Id:
rs12038474
gnomAD v2:
1-22403357-G-A
gnomAD v3:
1-22076864-G-A
gnomAD v4:
1-22076864-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.22076864G>A , CM000663.2:g.22076864G>A | GRCh38 |
| NC_000001.10:g.22403357G>A , CM000663.1:g.22403357G>A | GRCh37 |
| NC_000001.9:g.22275944G>A | NCBI36 |
| NG_047042.1:g.29238G>A | |
| NG_047042.2:g.29156G>A | |
| NG_047042.3:g.56354G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000315554.15:c.-50-1565G>A | ENSP00000314458.8:n.-50-1565G>A | |
| ENST00000344548.8:c.-50-1565G>A | ENSP00000341072.3:n.-50-1565G>A | |
| ENST00000411827.2:c.-50-1565G>A | ENSP00000398327.2:n.-50-1565G>A | |
| ENST00000662562.2:c.-50-1565G>A | ENSP00000499612.1:n.-50-1565G>A | |
| ENST00000667384.2:c.-50-1565G>A | ENSP00000499473.1:n.-50-1565G>A | |
| ENST00000695796.1:c.-50-1565G>A | ENSP00000512176.1:n.-50-1565G>A | |
| ENST00000695797.1:c.-50-1565G>A | ENSP00000512177.1:n.-50-1565G>A | |
| ENST00000695798.1:c.-50-1565G>A | ENSP00000512178.1:n.-50-1565G>A | |
| ENST00000695799.1:c.-50-1565G>A | ENSP00000512179.1:n.-50-1565G>A | |
| ENST00000695800.1:c.-50-1565G>A | ENSP00000512180.1:n.-50-1565G>A | |
| ENST00000695801.1:c.-50-1565G>A | ENSP00000512181.1:n.-50-1565G>A | |
| ENST00000695802.1:c.-104G>A | ENSP00000512182.1:n.-104G>A | |
| ENST00000695855.1:c.-50-1565G>A | ENSP00000512220.1:n.-50-1565G>A | |
| ENST00000695856.1:c.-50-1565G>A | ENSP00000512221.1:n.-50-1565G>A | |
| ENST00000695857.1:c.-50-1565G>A | ENSP00000512222.1:n.-50-1565G>A | |
| ENST00000695858.1:c.-50-1565G>A | ENSP00000512223.1:n.-50-1565G>A | |
| ENST00000695859.1:c.-50-1565G>A | ENSP00000512224.1:n.-50-1565G>A | |
| ENST00000695860.1:c.-50-1565G>A | ENSP00000512225.1:n.-50-1565G>A | |
| ENST00000315554.13:c.-50-1565G>A | ENSP00000314458.8:n.-50-1565G>A | |
| ENST00000648594.1:c.-50-1565G>A | ENSP00000497733.1:n.-50-1565G>A | |
| ENST00000651171.1:c.-50-1565G>A | ENSP00000499132.1:n.-50-1565G>A | |
| ENST00000652582.1:c.-50-1565G>A | ENSP00000498275.1:n.-50-1565G>A | |
| ENST00000656825.1:c.-50-1565G>A MANE Select | ENSP00000499457.1:n.-50-1565G>A | |
| ENST00000662562.1:c.-50-1565G>A | ENSP00000499612.1:n.-50-1565G>A | |
| ENST00000667384.1:c.-50-1565G>A | ENSP00000499473.1:n.-50-1565G>A | |
| ENST00000315554.12:c.-50-1565G>A | ENSP00000314458.8:n.-50-1565G>A | |
| ENST00000344548.7:c.-50-1565G>A | ENSP00000341072.3:n.-50-1565G>A | |
| ENST00000400259.5:c.-50-1565G>A | ENSP00000383118.1:n.-50-1565G>A | |
| ENST00000411827.1:c.-50-1565G>A | ENSP00000398327.1:n.-50-1565G>A | |
| ENST00000498236.1:n.37-1565G>A | ||
| NM_001039802.1:c.-50-1565G>A | NP_001034891.1:n.-50-1565G>A | |
| NM_001791.3:c.-50-1565G>A | NP_001782.1:n.-50-1565G>A | |
| NM_044472.2:c.-50-1565G>A | NP_426359.1:n.-50-1565G>A | |
| NM_001791.4:c.-50-1565G>A MANE Select | NP_001782.1:n.-50-1565G>A | |
| NM_001039802.2:c.-50-1565G>A | NP_001034891.1:n.-50-1565G>A | |
| NM_044472.3:c.-50-1565G>A | NP_426359.1:n.-50-1565G>A |