Linked Data
dbSNP Id:
rs772695637
ExAC:
15:67073454 T / C
gnomAD v2:
15-67073454-T-C
gnomAD v4:
15-66781116-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66781116T>C , CM000677.2:g.66781116T>C | GRCh38 |
| NC_000015.9:g.67073454T>C , CM000677.1:g.67073454T>C | GRCh37 |
| NC_000015.8:g.64860508T>C | NCBI36 |
| NG_012244.1:g.83781T>C | |
| NG_012244.2:g.83781T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288840.10:c.1072T>C MANE Select | ENSP00000288840.5:p.Tyr358His | |
| ENST00000288840.9:c.1072T>C | ENSP00000288840.5:p.Tyr358His | |
| ENST00000557916.5:c.1204T>C | ENSP00000452955.1:n.1204T>C | |
| ENST00000559931.5:c.376T>C | ENSP00000453446.1:n.376T>C | |
| NM_005585.4:c.1072T>C | NP_005576.3:p.Tyr358His | |
| NR_027654.1:n.2127T>C | ||
| XM_011521561.1:c.289T>C | XP_011519863.1:p.Tyr97His | |
| XR_931825.1:n.2471T>C | ||
| XM_011521561.2:c.289T>C | XP_011519863.1:p.Tyr97His | |
| NM_005585.5:c.1072T>C MANE Select | NP_005576.3:p.Tyr358His | |
| NR_027654.2:n.2227T>C |