Linked Data
dbSNP Id:
rs773339670
ExAC:
1:43804254 C / A
gnomAD v2:
1-43804254-C-A
gnomAD v3:
1-43338583-C-A
gnomAD v4:
1-43338583-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.43338583C>A , CM000663.2:g.43338583C>A | GRCh38 |
| NC_000001.10:g.43804254C>A , CM000663.1:g.43804254C>A | GRCh37 |
| NC_000001.9:g.43576841C>A | NCBI36 |
| NG_007525.1:g.5780C>A , LRG_510:g.5780C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372470.9:c.254C>A MANE Select | ENSP00000361548.3:p.Pro85His | |
| ENST00000413998.7:c.233C>A | ENSP00000414004.3:p.Pro78His | |
| ENST00000638732.1:n.254C>A | ||
| ENST00000372470.7:c.254C>A | ENSP00000361548.3:p.Pro85His | |
| ENST00000413998.6:c.254C>A | ENSP00000414004.2:p.Pro85His | |
| ENST00000612993.1:c.254C>A | ENSP00000480273.1:p.Pro85His | |
| NM_005373.2:c.254C>A , LRG_510t1:c.254C>A | NP_005364.1:p.Pro85His | |
| XM_011541478.1:c.233C>A | XP_011539780.1:p.Pro78His | |
| XM_017001320.1:c.425C>A | XP_016856809.1:p.Pro142His | |
| NM_005373.3:c.254C>A MANE Select | NP_005364.1:p.Pro85His |