Linked Data
dbSNP Id:
rs568179669
ExAC:
15:72103974 C / T
gnomAD v2:
15-72103974-C-T
gnomAD v3:
15-71811634-C-T
gnomAD v4:
15-71811634-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.71811634C>T , CM000677.2:g.71811634C>T | GRCh38 |
| NC_000015.9:g.72103974C>T , CM000677.1:g.72103974C>T | GRCh37 |
| NC_000015.8:g.69891028C>T | NCBI36 |
| NG_009113.2:g.6080C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617575.5:c.245+25C>T MANE Select | ENSP00000482504.1:n.245+25C>T | |
| ENST00000617575.4:c.245+25C>T | ENSP00000482504.1:n.245+25C>T | |
| ENST00000621098.1:c.245+25C>T | ENSP00000479962.1:n.245+25C>T | |
| ENST00000621736.4:c.-20+25C>T | ENSP00000479254.1:n.-20+25C>T | |
| NM_014249.3:c.245+25C>T | NP_055064.1:n.245+25C>T | |
| NM_016346.3:c.245+25C>T | NP_057430.1:n.245+25C>T | |
| XM_011521146.1:c.-20+25C>T | XP_011519448.1:n.-20+25C>T | |
| NM_014249.4:c.245+25C>T MANE Select | NP_055064.1:n.245+25C>T | |
| NM_016346.4:c.245+25C>T | NP_057430.1:n.245+25C>T |