Linked Data
dbSNP Id:
rs762507077
ExAC:
4:178359893 G / A
gnomAD v2:
4-178359893-G-A
gnomAD v4:
4-177438739-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.177438739G>A , CM000666.2:g.177438739G>A | GRCh38 |
| NC_000004.11:g.178359893G>A , CM000666.1:g.178359893G>A | GRCh37 |
| NC_000004.10:g.178596887G>A | NCBI36 |
| NG_011845.2:g.8765C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264595.7:c.507+6C>T MANE Select | ENSP00000264595.2:n.507+6C>T | |
| ENST00000264595.6:c.507+6C>T | ENSP00000264595.2:n.507+6C>T | |
| ENST00000502310.5:c.162+6C>T | ENSP00000423798.1:n.162+6C>T | |
| ENST00000506853.5:n.541+6C>T | ||
| ENST00000510635.1:c.203+6C>T | ||
| ENST00000510955.5:n.428+6C>T | ||
| NM_000027.3:c.507+6C>T | NP_000018.2:n.507+6C>T | |
| NM_001171988.1:c.507+6C>T | NP_001165459.1:n.507+6C>T | |
| NR_033655.1:n.635+6C>T | ||
| XM_006714123.2:c.507+6C>T | XP_006714186.1:n.507+6C>T | |
| XR_001741155.2:n.601+6C>T | ||
| NM_000027.4:c.507+6C>T MANE Select | NP_000018.2:n.507+6C>T | |
| NM_001171988.2:c.507+6C>T | NP_001165459.1:n.507+6C>T | |
| NR_033655.2:n.569+6C>T |