Linked Data
dbSNP Id:
rs768096969
ExAC:
1:62913178 T / C
gnomAD v2:
1-62913178-T-C
gnomAD v4:
1-62447507-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.62447507T>C , CM000663.2:g.62447507T>C | GRCh38 |
| NC_000001.10:g.62913178T>C , CM000663.1:g.62913178T>C | GRCh37 |
| NC_000001.9:g.62685766T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000339950.5:c.1416T>C MANE Select | ENSP00000343526.4:p.Ser472= | |
| ENST00000339950.4:c.1416T>C | ENSP00000343526.4:p.Ser472= | |
| ENST00000371146.5:c.1416T>C | ENSP00000360188.1:p.Ser472= | |
| NM_001017415.1:c.1416T>C | NP_001017415.1:p.Ser472= | |
| NM_001017416.1:c.1416T>C | NP_001017416.1:p.Ser472= | |
| NM_003368.4:c.1416T>C | NP_003359.3:p.Ser472= | |
| NM_003368.5:c.1416T>C MANE Select | NP_003359.3:p.Ser472= | |
| NM_001017415.2:c.1416T>C | NP_001017415.1:p.Ser472= | |
| NM_001017416.2:c.1416T>C | NP_001017416.1:p.Ser472= |