Linked Data
dbSNP Id:
rs2271347
gnomAD v2:
1-226549498-G-A
gnomAD v3:
1-226361797-G-A
gnomAD v4:
1-226361797-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.226361797G>A , CM000663.2:g.226361797G>A | GRCh38 |
| NC_000001.10:g.226549498G>A , CM000663.1:g.226549498G>A | GRCh37 |
| NC_000001.9:g.224616121G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366794.10:c.2963+172C>T MANE Select | ENSP00000355759.5:n.2963+172C>T | |
| ENST00000498787.2:n.4835+172C>T | ||
| ENST00000676481.1:n.408+172C>T | ||
| ENST00000676565.1:n.2735+172C>T | ||
| ENST00000676685.1:n.5397+172C>T | ||
| ENST00000676709.1:n.3970+172C>T | ||
| ENST00000677091.1:c.*1645+172C>T | ENSP00000504745.1:n.*1645+172C>T | |
| ENST00000677189.1:n.1016+172C>T | ||
| ENST00000677203.1:c.2834+172C>T | ENSP00000503396.1:n.2834+172C>T | |
| ENST00000677884.1:n.3775+172C>T | ||
| ENST00000677985.1:n.953+172C>T | ||
| ENST00000678144.1:c.*1783+172C>T | ENSP00000504430.1:n.*1783+172C>T | |
| ENST00000678226.1:n.1942+172C>T | ||
| ENST00000678288.1:n.1088+172C>T | ||
| ENST00000678560.1:c.*2951+172C>T | ENSP00000503293.1:n.*2951+172C>T | |
| ENST00000678781.1:n.4615+172C>T | ||
| ENST00000679276.1:n.4119+172C>T | ||
| ENST00000366794.9:c.2963+172C>T | ENSP00000355759.5:n.2963+172C>T | |
| ENST00000463968.5:n.607+172C>T | ||
| ENST00000468608.1:n.349C>T | ||
| ENST00000490921.5:n.2918+172C>T | ||
| ENST00000491816.1:n.284+172C>T | ||
| NM_001618.3:c.2963+172C>T | NP_001609.2:n.2963+172C>T | |
| NM_001618.4:c.2963+172C>T MANE Select | NP_001609.2:n.2963+172C>T |