Linked Data
ClinVar Variation Id:
241464
dbSNP Id:
rs878855081
gnomAD v2:
16-74752981-A-G
gnomAD v3:
16-74719083-A-G
gnomAD v4:
16-74719083-A-G
COSMIC:
COSM6002221
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.74719083A>G , CM000678.2:g.74719083A>G | GRCh38 |
| NC_000016.9:g.74752981A>G , CM000678.1:g.74752981A>G | GRCh37 |
| NC_000016.8:g.73310482A>G | NCBI36 |
| NG_017070.1:g.60749T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219368.8:c.691T>C MANE Select | ENSP00000219368.3:p.Tyr231His | |
| ENST00000219368.7:c.691T>C | ENSP00000219368.3:p.Tyr231His | |
| ENST00000567683.5:c.441T>C | ENSP00000455126.1:p.Ser147= | |
| ENST00000569949.1:c.493T>C | ENSP00000464576.1:p.Tyr165His | |
| NM_024306.4:c.691T>C | NP_077282.3:p.Tyr231His | |
| XM_011523317.1:c.691T>C | XP_011521619.1:p.Tyr231His | |
| XM_011523318.1:c.691T>C | XP_011521620.1:p.Tyr231His | |
| XM_011523319.1:c.451T>C | XP_011521621.1:p.Tyr151His | |
| XM_011523317.3:c.691T>C | XP_011521619.1:p.Tyr231His | |
| XM_011523319.2:c.451T>C | XP_011521621.1:p.Tyr151His | |
| NM_024306.5:c.691T>C MANE Select | NP_077282.3:p.Tyr231His |