gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66742613C>T , CM000677.2:g.66742613C>T | GRCh38 |
| NC_000015.9:g.67034951C>T , CM000677.1:g.67034951C>T | GRCh37 |
| NC_000015.8:g.64822005C>T | NCBI36 |
| NG_012244.1:g.45278C>T | |
| NG_012244.2:g.45278C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288840.10:c.952+26115C>T MANE Select | ENSP00000288840.5:n.952+26115C>T | |
| ENST00000288840.9:c.952+26115C>T | ENSP00000288840.5:n.952+26115C>T | |
| ENST00000557916.5:c.1084+25473C>T | ENSP00000452955.1:n.1084+25473C>T | |
| ENST00000559931.5:c.256+25473C>T | ENSP00000453446.1:n.256+25473C>T | |
| NM_005585.4:c.952+26115C>T | NP_005576.3:n.952+26115C>T | |
| NR_027654.1:n.2007+25473C>T | ||
| XM_011521561.1:c.169+26115C>T | XP_011519863.1:n.169+26115C>T | |
| XR_931825.1:n.2351+26115C>T | ||
| XM_011521561.2:c.169+26115C>T | XP_011519863.1:n.169+26115C>T | |
| NM_005585.5:c.952+26115C>T MANE Select | NP_005576.3:n.952+26115C>T | |
| NR_027654.2:n.2107+25473C>T |