Linked Data
dbSNP Id:
rs777327873
ExAC:
20:60503417 C / T
gnomAD v2:
20-60503417-C-T
gnomAD v3:
20-61928359-C-T
gnomAD v4:
20-61928359-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.61928359C>T , CM000682.2:g.61928359C>T | GRCh38 |
| NC_000020.10:g.60503417C>T , CM000682.1:g.60503417C>T | GRCh37 |
| NC_000020.9:g.59936812C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000614565.5:c.1941C>T MANE Select | ENSP00000484928.1:p.Tyr647= | |
| ENST00000543233.2:c.1719C>T | ENSP00000443301.1:p.Tyr573= | |
| ENST00000611855.4:c.1659C>T | ENSP00000480844.1:p.Tyr553= | |
| ENST00000614565.4:c.1941C>T | ENSP00000484928.1:p.Tyr647= | |
| NM_001252338.2:c.1830C>T | NP_001239267.1:p.Tyr610= | |
| NM_001252339.2:c.1719C>T | NP_001239268.1:p.Tyr573= | |
| NM_001794.4:c.1941C>T | NP_001785.2:p.Tyr647= | |
| NM_001794.5:c.1941C>T MANE Select | NP_001785.2:p.Tyr647= | |
| NM_001252339.3:c.1719C>T | NP_001239268.1:p.Tyr573= |