Linked Data
ClinVar Variation Id:
1444435
ClinVar RCV Id:
RCV001992355
dbSNP Id:
rs774876990
ExAC:
5:140953558 G / T
gnomAD v2:
5-140953558-G-T
gnomAD v3:
5-141573991-G-T
gnomAD v4:
5-141573991-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.141573991G>T , CM000667.2:g.141573991G>T | GRCh38 |
| NC_000005.9:g.140953558G>T , CM000667.1:g.140953558G>T | GRCh37 |
| NC_000005.8:g.140933742G>T | NCBI36 |
| NG_011594.1:g.50065C>A | |
| NG_011594.2:g.50065C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389054.8:c.1859C>A MANE Select | ENSP00000373706.4:p.Pro620His | |
| ENST00000647433.1:c.1859C>A | ENSP00000494675.1:p.Pro620His | |
| ENST00000253811.10:c.1727C>A | ENSP00000253811.7:p.Pro576His | |
| ENST00000389054.7:c.1859C>A | ENSP00000373706.4:p.Pro620His | |
| ENST00000389057.9:c.1832C>A | ENSP00000373709.6:p.Pro611His | |
| ENST00000398557.8:c.1859C>A | ENSP00000381565.5:p.Pro620His | |
| ENST00000518047.5:c.1832C>A | ENSP00000428268.2:p.Pro611His | |
| NM_001079812.2:c.1832C>A | NP_001073280.1:p.Pro611His | |
| NM_001314007.1:c.1859C>A | NP_001300936.1:p.Pro620His | |
| NM_005219.4:c.1859C>A | NP_005210.3:p.Pro620His | |
| XM_011537572.1:c.1823C>A | XP_011535874.1:p.Pro608His | |
| XM_011537573.1:c.1793C>A | XP_011535875.1:p.Pro598His | |
| XM_024454384.1:c.1859C>A | XP_024310152.1:p.Pro620His | |
| XM_024454385.1:c.1832C>A | XP_024310153.1:p.Pro611His | |
| XM_024454386.1:c.1823C>A | XP_024310154.1:p.Pro608His | |
| XM_024454387.1:c.1793C>A | XP_024310155.1:p.Pro598His | |
| NM_005219.5:c.1859C>A MANE Select | NP_005210.3:p.Pro620His | |
| NM_001079812.3:c.1832C>A | NP_001073280.1:p.Pro611His | |
| NM_001314007.2:c.1859C>A | NP_001300936.1:p.Pro620His |