Linked Data
ClinVar Variation Id:
348231
ClinVar RCV Id:
RCV000285126
dbSNP Id:
rs886059260
gnomAD v4:
4-177434496-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.177434496G>A , CM000666.2:g.177434496G>A | GRCh38 |
| NC_000004.11:g.178355650G>A , CM000666.1:g.178355650G>A | GRCh37 |
| NC_000004.10:g.178592644G>A | NCBI36 |
| NG_011845.2:g.13008C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264595.7:c.699-7C>T MANE Select | ENSP00000264595.2:n.699-7C>T | |
| ENST00000264595.6:c.699-7C>T | ENSP00000264595.2:n.699-7C>T | |
| ENST00000502310.5:c.278-15C>T | ENSP00000423798.1:n.278-15C>T | |
| ENST00000506853.5:n.657-7C>T | ||
| ENST00000510635.1:c.373-15C>T | ||
| NM_000027.3:c.699-7C>T | NP_000018.2:n.699-7C>T | |
| NM_001171988.1:c.677-15C>T | NP_001165459.1:n.677-15C>T | |
| NR_033655.1:n.751-7C>T | ||
| XM_006714123.2:c.677-7C>T | XP_006714186.1:n.677-7C>T | |
| XR_001741155.2:n.771-7C>T | ||
| NM_000027.4:c.699-7C>T MANE Select | NP_000018.2:n.699-7C>T | |
| NM_001171988.2:c.677-15C>T | NP_001165459.1:n.677-15C>T | |
| NR_033655.2:n.685-7C>T |