Linked Data
dbSNP Id:
rs1003292595
gnomAD v2:
6-38365722-G-A
gnomAD v3:
6-38397946-G-A
gnomAD v4:
6-38397946-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.38397946G>A , CM000668.2:g.38397946G>A | GRCh38 |
| NC_000006.11:g.38365722G>A , CM000668.1:g.38365722G>A | GRCh37 |
| NC_000006.10:g.38473700G>A | NCBI36 |
| NG_016545.1:g.247203C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000481247.6:c.1155-52853C>T MANE Select | ENSP00000418751.1:n.1155-52853C>T | |
| ENST00000649492.1:c.1155-52853C>T | ENSP00000497066.1:n.1155-52853C>T | |
| ENST00000314100.10:c.951-52853C>T | ENSP00000323408.6:n.951-52853C>T | |
| ENST00000328403.10:c.*63-52853C>T | ENSP00000328328.6:n.*63-52853C>T | |
| ENST00000419706.6:c.1064+4871C>T | ENSP00000415365.2:n.1064+4871C>T | |
| ENST00000481247.5:c.1155-52853C>T | ENSP00000418751.1:n.1155-52853C>T | |
| NM_001099272.1:c.1155-52853C>T | NP_001092742.1:n.1155-52853C>T | |
| NM_001172418.1:c.1064+4871C>T | NP_001165889.1:n.1064+4871C>T | |
| NM_052893.1:c.1155-52853C>T | NP_443125.1:n.1155-52853C>T | |
| NM_152733.2:c.951-52853C>T | NP_689946.2:n.951-52853C>T | |
| XM_005248841.2:c.1155-52853C>T | XP_005248898.1:n.1155-52853C>T | |
| XM_011514279.1:c.1155-52853C>T | XP_011512581.1:n.1155-52853C>T | |
| XM_011514281.1:c.1155-52676C>T | XP_011512583.1:n.1155-52676C>T | |
| XM_011514279.3:c.1155-52853C>T | XP_011512581.1:n.1155-52853C>T | |
| XM_011514281.3:c.1155-52676C>T | XP_011512583.1:n.1155-52676C>T | |
| NM_001099272.2:c.1155-52853C>T MANE Select | NP_001092742.1:n.1155-52853C>T | |
| NM_052893.2:c.1155-52853C>T | NP_443125.1:n.1155-52853C>T | |
| NM_001172418.2:c.1064+4871C>T | NP_001165889.1:n.1064+4871C>T | |
| NM_152733.3:c.951-52853C>T | NP_689946.2:n.951-52853C>T |