Linked Data
dbSNP Id:
rs776944229
ExAC:
15:66995594 C / T
gnomAD v2:
15-66995594-C-T
gnomAD v3:
15-66703256-C-T
gnomAD v4:
15-66703256-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66703256C>T , CM000677.2:g.66703256C>T | GRCh38 |
| NC_000015.9:g.66995594C>T , CM000677.1:g.66995594C>T | GRCh37 |
| NC_000015.8:g.64782648C>T | NCBI36 |
| NG_012244.1:g.5921C>T | |
| NG_012244.2:g.5921C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288840.10:c.-3C>T MANE Select | ENSP00000288840.5:n.-3C>T | |
| ENST00000288840.9:c.-3C>T | ENSP00000288840.5:n.-3C>T | |
| ENST00000612349.1:n.180C>T | ||
| NM_005585.4:c.-3C>T | NP_005576.3:n.-3C>T | |
| NR_027654.1:n.921C>T | ||
| XR_931825.1:n.1157C>T | ||
| XR_931826.1:n.1157C>T | ||
| XR_931827.1:n.1157C>T | ||
| XR_931827.2:n.1147C>T | ||
| NM_005585.5:c.-3C>T MANE Select | NP_005576.3:n.-3C>T | |
| NR_027654.2:n.1021C>T |