Linked Data
dbSNP Id:
rs1894550630
gnomAD v4:
15-66781016-C-T
MyVariant Identifiers:
chr15:g.67073354C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66781016C>T , CM000677.2:g.66781016C>T | GRCh38 |
| NC_000015.9:g.67073354C>T , CM000677.1:g.67073354C>T | GRCh37 |
| NC_000015.8:g.64860408C>T | NCBI36 |
| NG_012244.1:g.83681C>T | |
| NG_012244.2:g.83681C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288840.10:c.972C>T MANE Select | ENSP00000288840.5:p.Asp324= | |
| ENST00000288840.9:c.972C>T | ENSP00000288840.5:p.Asp324= | |
| ENST00000557916.5:c.1104C>T | ENSP00000452955.1:n.1104C>T | |
| ENST00000559931.5:c.276C>T | ENSP00000453446.1:n.276C>T | |
| NM_005585.4:c.972C>T | NP_005576.3:p.Asp324= | |
| NR_027654.1:n.2027C>T | ||
| XM_011521561.1:c.189C>T | XP_011519863.1:p.Asp63= | |
| XR_931825.1:n.2371C>T | ||
| XM_011521561.2:c.189C>T | XP_011519863.1:p.Asp63= | |
| NM_005585.5:c.972C>T MANE Select | NP_005576.3:p.Asp324= | |
| NR_027654.2:n.2127C>T |