Linked Data
ClinVar Variation Id:
225825
ClinVar RCV Id:
RCV002054364
dbSNP Id:
rs11075995
gnomAD v2:
16-53855291-A-T
gnomAD v3:
16-53821379-A-T
gnomAD v4:
16-53821379-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.53821379A>T , CM000678.2:g.53821379A>T | GRCh38 |
| NC_000016.9:g.53855291A>T , CM000678.1:g.53855291A>T | GRCh37 |
| NC_000016.8:g.52412792A>T | NCBI36 |
| NG_012969.1:g.122417A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000471389.6:c.124-4485A>T MANE Select | ENSP00000418823.1:n.124-4485A>T | |
| ENST00000636030.1:n.151-4485A>T | ||
| ENST00000636218.1:c.124-4485A>T | ENSP00000489641.1:n.124-4485A>T | |
| ENST00000636491.1:c.106-4485A>T | ENSP00000490047.1:n.106-4485A>T | |
| ENST00000636992.1:c.124-4485A>T | ENSP00000489886.1:n.124-4485A>T | |
| ENST00000637001.1:c.124-4485A>T | ENSP00000489936.1:n.124-4485A>T | |
| ENST00000637562.1:c.124-4485A>T | ENSP00000490426.1:n.124-4485A>T | |
| ENST00000637845.1:c.124-4485A>T | ENSP00000489638.1:n.124-4485A>T | |
| ENST00000637969.1:c.124-4485A>T | ENSP00000490516.1:n.124-4485A>T | |
| ENST00000640179.1:c.123+11162A>T | ENSP00000490980.1:n.123+11162A>T | |
| ENST00000464071.1:c.123+11162A>T | ENSP00000418424.1:n.123+11162A>T | |
| ENST00000471389.5:c.124-4485A>T | ENSP00000418823.1:n.124-4485A>T | |
| ENST00000570395.1:n.451-4485A>T | ||
| NM_001080432.2:c.124-4485A>T | NP_001073901.1:n.124-4485A>T | |
| XM_011523313.1:c.124-4485A>T | XP_011521615.1:n.124-4485A>T | |
| XM_011523314.1:c.124-4485A>T | XP_011521616.1:n.124-4485A>T | |
| XM_011523315.1:c.124-4485A>T | XP_011521617.1:n.124-4485A>T | |
| XM_011523316.1:c.124-4485A>T | XP_011521618.1:n.124-4485A>T | |
| NM_001363891.1:c.124-4485A>T | NP_001350820.1:n.124-4485A>T | |
| NM_001363894.1:c.124-4485A>T | NP_001350823.1:n.124-4485A>T | |
| NM_001363896.1:c.124-4485A>T | NP_001350825.1:n.124-4485A>T | |
| NM_001363897.1:c.46-4485A>T | NP_001350826.1:n.46-4485A>T | |
| NM_001363898.1:c.124-4485A>T | NP_001350827.1:n.124-4485A>T | |
| NM_001363899.1:c.124-4485A>T | NP_001350828.1:n.124-4485A>T | |
| NM_001363900.1:c.124-4485A>T | NP_001350829.1:n.124-4485A>T | |
| NM_001363901.1:c.124-4485A>T | NP_001350830.1:n.124-4485A>T | |
| NM_001363903.1:c.124-4485A>T | NP_001350832.1:n.124-4485A>T | |
| NM_001363905.1:c.-390-4485A>T | NP_001350834.1:n.-390-4485A>T | |
| NM_001363988.1:c.124-4485A>T | NP_001350917.1:n.124-4485A>T | |
| NR_156761.1:n.345+11162A>T | ||
| XM_011523314.3:c.124-4485A>T | XP_011521616.1:n.124-4485A>T | |
| XM_011523315.3:c.124-4485A>T | XP_011521617.1:n.124-4485A>T | |
| XM_011523316.3:c.124-4485A>T | XP_011521618.1:n.124-4485A>T | |
| XM_017023654.2:c.124-4485A>T | XP_016879143.1:n.124-4485A>T | |
| XM_017023655.2:c.124-4485A>T | XP_016879144.1:n.124-4485A>T | |
| XM_017023656.2:c.124-4485A>T | XP_016879145.1:n.124-4485A>T | |
| XM_017023657.2:c.124-4485A>T | XP_016879146.1:n.124-4485A>T | |
| XM_017023658.2:c.124-4485A>T | XP_016879147.1:n.124-4485A>T | |
| XM_024450437.1:c.124-4485A>T | XP_024306205.1:n.124-4485A>T | |
| XR_002957840.1:n.167-4485A>T | ||
| NM_001080432.3:c.124-4485A>T MANE Select | NP_001073901.1:n.124-4485A>T |