Linked Data
dbSNP Id:
rs770703454
ExAC:
9:27183435 C / T
gnomAD v2:
9-27183435-C-T
gnomAD v4:
9-27183437-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.27183437C>T , CM000671.2:g.27183437C>T | GRCh38 |
| NC_000009.11:g.27183435C>T , CM000671.1:g.27183435C>T | GRCh37 |
| NC_000009.10:g.27173435C>T | NCBI36 |
| NG_011828.1:g.79289C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380036.10:c.1031-22C>T MANE Select | ENSP00000369375.4:n.1031-22C>T | |
| ENST00000380036.8:c.1031-22C>T | ENSP00000369375.4:n.1031-22C>T | |
| ENST00000406359.8:c.902-22C>T | ENSP00000383977.4:n.902-22C>T | |
| ENST00000519080.1:c.461-22C>T | ENSP00000428337.1:n.461-22C>T | |
| ENST00000519097.5:c.590-22C>T | ENSP00000430686.1:n.590-22C>T | |
| ENST00000615002.4:c.902-22C>T | ENSP00000480251.1:n.902-22C>T | |
| NM_000459.4:c.1031-22C>T | NP_000450.2:n.1031-22C>T | |
| NM_001290077.1:c.902-22C>T | NP_001277006.1:n.902-22C>T | |
| NM_001290078.1:c.590-22C>T | NP_001277007.1:n.590-22C>T | |
| XM_005251561.1:c.1031-22C>T | XP_005251618.1:n.1031-22C>T | |
| XM_005251563.1:c.902-22C>T | XP_005251620.1:n.902-22C>T | |
| XM_005251561.2:c.1031-22C>T | XP_005251618.1:n.1031-22C>T | |
| XM_005251563.2:c.902-22C>T | XP_005251620.1:n.902-22C>T | |
| NM_000459.5:c.1031-22C>T MANE Select | NP_000450.3:n.1031-22C>T | |
| NM_001375475.1:c.1031-22C>T | NP_001362404.1:n.1031-22C>T | |
| NM_001375476.1:c.902-22C>T | NP_001362405.1:n.902-22C>T |