Linked Data
dbSNP Id:
rs561142122
ExAC:
1:6172359 C / A
gnomAD v2:
1-6172359-C-A
gnomAD v3:
1-6112299-C-A
gnomAD v4:
1-6112299-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.6112299C>A , CM000663.2:g.6112299C>A | GRCh38 |
| NC_000001.10:g.6172359C>A , CM000663.1:g.6172359C>A | GRCh37 |
| NC_000001.9:g.6094946C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262450.8:c.5003-22G>T MANE Select | ENSP00000262450.3:n.5003-22G>T | |
| ENST00000262450.7:c.5003-22G>T | ENSP00000262450.3:n.5003-22G>T | |
| ENST00000377999.5:c.1906-22G>T | ENSP00000367238.2:n.1906-22G>T | |
| ENST00000462991.5:c.3256-22G>T | ||
| ENST00000496404.1:c.3721-22G>T | ENSP00000433676.1:n.3721-22G>T | |
| NM_015557.2:c.5003-22G>T | NP_056372.1:n.5003-22G>T | |
| NM_015557.3:c.5003-22G>T MANE Select | NP_056372.1:n.5003-22G>T |