Linked Data
dbSNP Id:
rs772337462
ExAC:
2:61605507 T / G
gnomAD v2:
2-61605507-T-G
gnomAD v4:
2-61378372-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.61378372T>G , CM000664.2:g.61378372T>G | GRCh38 |
| NC_000002.11:g.61605507T>G , CM000664.1:g.61605507T>G | GRCh37 |
| NC_000002.10:g.61459011T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398571.7:c.1067A>C MANE Select | ENSP00000381577.2:p.Asp356Ala | |
| ENST00000398571.6:c.1067A>C | ENSP00000381577.2:p.Asp356Ala | |
| ENST00000453133.1:c.593A>C | ||
| NM_014709.3:c.1067A>C | NP_055524.3:p.Asp356Ala | |
| NM_014709.4:c.1067A>C MANE Select | NP_055524.3:p.Asp356Ala |