Linked Data
dbSNP Id:
rs17818902
gnomAD v2:
16-53871806-T-G
gnomAD v3:
16-53837894-T-G
gnomAD v4:
16-53837894-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.53837894T>G , CM000678.2:g.53837894T>G | GRCh38 |
| NC_000016.9:g.53871806T>G , CM000678.1:g.53871806T>G | GRCh37 |
| NC_000016.8:g.52429307T>G | NCBI36 |
| NG_012969.1:g.138932T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000471389.6:c.752-6261T>G MANE Select | ENSP00000418823.1:n.752-6261T>G | |
| ENST00000563011.2:c.132-6261T>G | ||
| ENST00000636030.1:n.779-6261T>G | ||
| ENST00000636218.1:c.752-6261T>G | ENSP00000489641.1:n.752-6261T>G | |
| ENST00000636491.1:c.734-6261T>G | ENSP00000490047.1:n.734-6261T>G | |
| ENST00000636992.1:c.752-6261T>G | ENSP00000489886.1:n.752-6261T>G | |
| ENST00000637001.1:c.752-6261T>G | ENSP00000489936.1:n.752-6261T>G | |
| ENST00000637562.1:c.752-6261T>G | ENSP00000490426.1:n.752-6261T>G | |
| ENST00000637845.1:c.752-6261T>G | ENSP00000489638.1:n.752-6261T>G | |
| ENST00000637969.1:c.752-6261T>G | ENSP00000490516.1:n.752-6261T>G | |
| ENST00000640179.1:c.124-6261T>G | ENSP00000490980.1:n.124-6261T>G | |
| ENST00000464071.1:c.124-6261T>G | ENSP00000418424.1:n.124-6261T>G | |
| ENST00000471389.5:c.752-6261T>G | ENSP00000418823.1:n.752-6261T>G | |
| NM_001080432.2:c.752-6261T>G | NP_001073901.1:n.752-6261T>G | |
| XM_011523313.1:c.782-6261T>G | XP_011521615.1:n.782-6261T>G | |
| XM_011523314.1:c.782-6261T>G | XP_011521616.1:n.782-6261T>G | |
| XM_011523315.1:c.782-6261T>G | XP_011521617.1:n.782-6261T>G | |
| XM_011523316.1:c.782-6261T>G | XP_011521618.1:n.782-6261T>G | |
| NM_001363891.1:c.782-6261T>G | NP_001350820.1:n.782-6261T>G | |
| NM_001363894.1:c.752-6261T>G | NP_001350823.1:n.752-6261T>G | |
| NM_001363896.1:c.752-6261T>G | NP_001350825.1:n.752-6261T>G | |
| NM_001363897.1:c.674-6261T>G | NP_001350826.1:n.674-6261T>G | |
| NM_001363898.1:c.782-6261T>G | NP_001350827.1:n.782-6261T>G | |
| NM_001363899.1:c.781+11373T>G | NP_001350828.1:n.781+11373T>G | |
| NM_001363900.1:c.752-6261T>G | NP_001350829.1:n.752-6261T>G | |
| NM_001363901.1:c.751+11403T>G | NP_001350830.1:n.751+11403T>G | |
| NM_001363903.1:c.752-6261T>G | NP_001350832.1:n.752-6261T>G | |
| NM_001363905.1:c.239-6261T>G | NP_001350834.1:n.239-6261T>G | |
| NM_001363988.1:c.752-6261T>G | NP_001350917.1:n.752-6261T>G | |
| NR_156761.1:n.346-6261T>G | ||
| XM_011523314.3:c.782-6261T>G | XP_011521616.1:n.782-6261T>G | |
| XM_011523315.3:c.782-6261T>G | XP_011521617.1:n.782-6261T>G | |
| XM_011523316.3:c.782-6261T>G | XP_011521618.1:n.782-6261T>G | |
| XM_017023654.2:c.782-6261T>G | XP_016879143.1:n.782-6261T>G | |
| XM_017023655.2:c.752-6261T>G | XP_016879144.1:n.752-6261T>G | |
| XM_017023656.2:c.752-6261T>G | XP_016879145.1:n.752-6261T>G | |
| XM_017023657.2:c.752-6261T>G | XP_016879146.1:n.752-6261T>G | |
| XM_017023658.2:c.782-6261T>G | XP_016879147.1:n.782-6261T>G | |
| XM_024450437.1:c.752-6261T>G | XP_024306205.1:n.752-6261T>G | |
| XR_002957840.1:n.795-6261T>G | ||
| NM_001080432.3:c.752-6261T>G MANE Select | NP_001073901.1:n.752-6261T>G |