Linked Data
dbSNP Id:
rs763006207
ExAC:
1:16351412 C / T
gnomAD v2:
1-16351412-C-T
gnomAD v3:
1-16024917-C-T
gnomAD v4:
1-16024917-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16024917C>T , CM000663.2:g.16024917C>T | GRCh38 |
| NC_000001.10:g.16351412C>T , CM000663.1:g.16351412C>T | GRCh37 |
| NC_000001.9:g.16223999C>T | NCBI36 |
| NG_009359.1:g.7927C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331433.5:c.358+26C>T MANE Select | ENSP00000332771.4:n.358+26C>T | |
| ENST00000331433.4:c.358+26C>T | ENSP00000332771.4:n.358+26C>T | |
| ENST00000375692.5:c.358+26C>T | ENSP00000364844.1:n.358+26C>T | |
| ENST00000439316.6:c.229+989C>T | ENSP00000414445.2:n.229+989C>T | |
| ENST00000464764.5:n.921+26C>T | ||
| ENST00000495784.1:n.516+26C>T | ||
| NM_001042704.1:c.358+26C>T | NP_001036169.1:n.358+26C>T | |
| NM_001257139.1:c.229+989C>T | NP_001244068.1:n.229+989C>T | |
| NM_004070.3:c.358+26C>T | NP_004061.3:n.358+26C>T | |
| NM_004070.4:c.358+26C>T MANE Select | NP_004061.3:n.358+26C>T | |
| NM_001042704.2:c.358+26C>T | NP_001036169.1:n.358+26C>T | |
| NM_001257139.2:c.229+989C>T | NP_001244068.1:n.229+989C>T |