Linked Data
dbSNP Id:
rs762757920
ExAC:
7:65425933 G / T
gnomAD v2:
7-65425933-G-T
gnomAD v4:
7-65960946-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.65960946G>T , CM000669.2:g.65960946G>T | GRCh38 |
| NC_000007.13:g.65425933G>T , CM000669.1:g.65425933G>T | GRCh37 |
| NC_000007.12:g.65063368G>T | NCBI36 |
| NG_016197.1:g.26369C>A | |
| NG_051954.1:g.92848G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304895.9:c.1907C>A MANE Select | ENSP00000302728.4:p.Pro636His | |
| ENST00000304895.8:c.1907C>A | ENSP00000302728.4:p.Pro636His | |
| ENST00000421103.5:c.1469C>A | ENSP00000391390.1:p.Pro490His | |
| ENST00000430730.5:c.*1174C>A | ENSP00000411859.1:n.*1174C>A | |
| ENST00000447929.5:c.*1287C>A | ENSP00000411262.1:n.*1287C>A | |
| ENST00000466883.5:n.2297C>A | ||
| NM_000181.3:c.1907C>A | NP_000172.2:p.Pro636His | |
| NM_001284290.1:c.1469C>A | NP_001271219.1:p.Pro490His | |
| NM_001293104.1:c.1337C>A | NP_001280033.1:p.Pro446His | |
| NM_001293105.1:c.1250C>A | NP_001280034.1:p.Pro417His | |
| NR_120531.1:n.1953C>A | ||
| XM_005250297.3:c.1754C>A | XP_005250354.1:p.Pro585His | |
| XM_011516113.1:c.1406C>A | XP_011514415.1:p.Pro469His | |
| XM_011516114.1:c.1235C>A | XP_011514416.1:p.Pro412His | |
| XM_005250297.4:c.1754C>A | XP_005250354.1:p.Pro585His | |
| XM_011516114.2:c.1235C>A | XP_011514416.1:p.Pro412His | |
| XM_017012091.1:c.1253C>A | XP_016867580.1:p.Pro418His | |
| XM_017012092.1:c.1184C>A | XP_016867581.1:p.Pro395His | |
| XM_017012093.2:c.1082C>A | XP_016867582.1:p.Pro361His | |
| XR_001744658.2:n.1714C>A | ||
| XR_001744659.2:n.1827C>A | ||
| XR_001744660.2:n.1759C>A | ||
| XR_001744661.2:n.1674C>A | ||
| XR_927461.3:n.1912C>A | ||
| NM_000181.4:c.1907C>A MANE Select | NP_000172.2:p.Pro636His | |
| NM_001284290.2:c.1469C>A | NP_001271219.1:p.Pro490His | |
| NM_001293104.2:c.1337C>A | NP_001280033.1:p.Pro446His | |
| NM_001293105.2:c.1250C>A | NP_001280034.1:p.Pro417His | |
| NR_120531.2:n.1852C>A |