Linked Data
dbSNP Id:
rs779620039
ExAC:
4:187158043 G / A
gnomAD v2:
4-187158043-G-A
gnomAD v4:
4-186236889-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186236889G>A , CM000666.2:g.186236889G>A | GRCh38 |
| NC_000004.11:g.187158043G>A , CM000666.1:g.187158043G>A | GRCh37 |
| NC_000004.10:g.187395037G>A | NCBI36 |
| NG_012095.2:g.32911G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264690.11:c.437G>A MANE Select | ENSP00000264690.6:p.Arg146His | |
| ENST00000264690.10:c.437G>A | ENSP00000264690.6:p.Arg146His | |
| ENST00000428196.5:c.437G>A | ENSP00000412366.1:p.Arg146His | |
| ENST00000446598.6:c.323G>A | ENSP00000415563.2:p.Arg108His | |
| ENST00000511406.5:n.467G>A | ||
| ENST00000511608.5:c.580G>A | ||
| ENST00000513864.2:c.323G>A | ENSP00000424469.2:p.Arg108His | |
| NM_000892.3:c.437G>A | NP_000883.2:p.Arg146His | |
| XM_011531930.1:c.437G>A | XP_011530232.1:p.Arg146His | |
| XM_011531931.1:c.437G>A | XP_011530233.1:p.Arg146His | |
| XM_011531932.1:c.323G>A | XP_011530234.1:p.Arg108His | |
| XM_011531933.1:c.323G>A | XP_011530235.1:p.Arg108His | |
| XM_011531934.1:c.-201G>A | XP_011530236.1:n.-201G>A | |
| NM_000892.4:c.437G>A | NP_000883.2:p.Arg146His | |
| NM_001318394.1:c.323G>A | NP_001305323.1:p.Arg108His | |
| NM_001318396.1:c.-201G>A | NP_001305325.1:n.-201G>A | |
| XM_011531930.2:c.437G>A | XP_011530232.1:p.Arg146His | |
| XM_017008181.1:c.437G>A | XP_016863670.1:p.Arg146His | |
| XM_017008182.1:c.437G>A | XP_016863671.1:p.Arg146His | |
| XM_017008183.1:c.437G>A | XP_016863672.1:p.Arg146His | |
| NM_000892.5:c.437G>A MANE Select | NP_000883.2:p.Arg146His | |
| NM_001318394.2:c.323G>A | NP_001305323.1:p.Arg108His | |
| NM_001318396.2:c.-201G>A | NP_001305325.1:n.-201G>A |