Linked Data
dbSNP Id:
rs769506873
ExAC:
1:6172382 C / T
gnomAD v2:
1-6172382-C-T
gnomAD v4:
1-6112322-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.6112322C>T , CM000663.2:g.6112322C>T | GRCh38 |
| NC_000001.10:g.6172382C>T , CM000663.1:g.6172382C>T | GRCh37 |
| NC_000001.9:g.6094969C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262450.8:c.5003-45G>A MANE Select | ENSP00000262450.3:n.5003-45G>A | |
| ENST00000262450.7:c.5003-45G>A | ENSP00000262450.3:n.5003-45G>A | |
| ENST00000377999.5:c.1906-45G>A | ENSP00000367238.2:n.1906-45G>A | |
| ENST00000462991.5:c.3256-45G>A | ||
| ENST00000496404.1:c.3721-45G>A | ENSP00000433676.1:n.3721-45G>A | |
| NM_015557.2:c.5003-45G>A | NP_056372.1:n.5003-45G>A | |
| NM_015557.3:c.5003-45G>A MANE Select | NP_056372.1:n.5003-45G>A |