Linked Data
dbSNP Id:
rs771509690
ExAC:
16:31004525 G / A
gnomAD v2:
16-31004525-G-A
gnomAD v3:
16-30993204-G-A
gnomAD v4:
16-30993204-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30993204G>A , CM000678.2:g.30993204G>A | GRCh38 |
| NC_000016.9:g.31004525G>A , CM000678.1:g.31004525G>A | GRCh37 |
| NC_000016.8:g.30912026G>A | NCBI36 |
| NG_041829.1:g.22305C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215095.11:c.712C>T MANE Select | ENSP00000215095.5:p.His238Tyr | |
| ENST00000565419.2:c.712C>T | ENSP00000455899.1:p.His238Tyr | |
| ENST00000215095.9:c.712C>T | ENSP00000215095.5:p.His238Tyr | |
| ENST00000565419.1:c.712C>T | ENSP00000455899.1:p.His238Tyr | |
| ENST00000569638.5:c.460C>T | ENSP00000457067.1:p.His154Tyr | |
| NM_052874.4:c.712C>T | NP_443106.1:p.His238Tyr | |
| XM_017022893.1:c.694C>T | XP_016878382.1:p.His232Tyr | |
| NM_052874.5:c.712C>T MANE Select | NP_443106.1:p.His238Tyr |