Linked Data
dbSNP Id:
rs761754085
ExAC:
12:52882193 T / G
gnomAD v2:
12-52882193-T-G
gnomAD v4:
12-52488409-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52488409T>G , CM000674.2:g.52488409T>G | GRCh38 |
| NC_000012.11:g.52882193T>G , CM000674.1:g.52882193T>G | GRCh37 |
| NC_000012.10:g.51168460T>G | NCBI36 |
| NG_008298.1:g.9989A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330722.7:c.1343A>C MANE Select | ENSP00000369317.3:p.Tyr448Ser | |
| ENST00000330722.6:c.1343A>C | ENSP00000369317.3:p.Tyr448Ser | |
| NM_005554.3:c.1343A>C | NP_005545.1:p.Tyr448Ser | |
| NM_005554.4:c.1343A>C MANE Select | NP_005545.1:p.Tyr448Ser |