Linked Data
ClinVar Variation Id:
1018862
ClinVar RCV Id:
RCV001318220
dbSNP Id:
rs2033952357
gnomAD v4:
17-82079611-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.82079611G>A , CM000679.2:g.82079611G>A | GRCh38 |
| NC_000017.10:g.80037487G>A , CM000679.1:g.80037487G>A | GRCh37 |
| NC_000017.9:g.77630776G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306749.4:c.7147-3C>T MANE Select | ENSP00000304592.2:n.7147-3C>T | |
| ENST00000306749.3:c.7147-3C>T | ENSP00000304592.2:n.7147-3C>T | |
| ENST00000578424.2:n.426-3C>T | ||
| ENST00000580382.1:c.317-3C>T | ||
| ENST00000584610.2:n.319C>T | ||
| ENST00000634990.1:c.7141-3C>T | ENSP00000488964.1:n.7141-3C>T | |
| NM_004104.4:c.7147-3C>T | NP_004095.4:n.7147-3C>T | |
| XM_011523538.1:c.7147-3C>T | XP_011521840.1:n.7147-3C>T | |
| XM_011523538.2:c.7147-3C>T | XP_011521840.1:n.7147-3C>T | |
| NM_004104.5:c.7147-3C>T MANE Select | NP_004095.4:n.7147-3C>T |