Linked Data
ClinVar Variation Id:
364270
ClinVar RCV Id:
RCV000347713
dbSNP Id:
rs41274981
gnomAD v2:
9-104124099-C-T
gnomAD v3:
9-101361817-C-T
gnomAD v4:
9-101361817-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.101361817C>T , CM000671.2:g.101361817C>T | GRCh38 |
| NC_000009.11:g.104124099C>T , CM000671.1:g.104124099C>T | GRCh37 |
| NC_000009.10:g.103163920C>T | NCBI36 |
| NG_009774.1:g.28189G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259407.7:c.*611G>A MANE Select | ENSP00000259407.2:n.*611G>A | |
| ENST00000674791.1:c.762+1106G>A | ENSP00000501644.1:n.762+1106G>A | |
| ENST00000674909.1:c.804+1064G>A | ENSP00000502812.1:n.804+1064G>A | |
| ENST00000259407.6:c.*611G>A | ENSP00000259407.2:n.*611G>A | |
| ENST00000395051.3:c.*611G>A | ENSP00000378491.3:n.*611G>A | |
| NM_001127610.1:c.*611G>A | NP_001121082.1:n.*611G>A | |
| NM_001701.3:c.*611G>A | NP_001692.1:n.*611G>A | |
| NM_001127610.2:c.*611G>A | NP_001121082.1:n.*611G>A | |
| NM_001374715.1:c.*611G>A | NP_001361644.1:n.*611G>A | |
| NM_001701.4:c.*611G>A MANE Select | NP_001692.1:n.*611G>A |