Linked Data
dbSNP Id:
rs780098157
ExAC:
2:121736149 A / G
gnomAD v2:
2-121736149-A-G
gnomAD v4:
2-120978573-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.120978573A>G , CM000664.2:g.120978573A>G | GRCh38 |
| NC_000002.11:g.121736149A>G , CM000664.1:g.121736149A>G | GRCh37 |
| NC_000002.10:g.121452619A>G | NCBI36 |
| NG_009030.1:g.186283A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361492.9:c.1457A>G MANE Select | ENSP00000354586.5:p.His486Arg | |
| ENST00000452319.6:c.1508A>G | ENSP00000390436.1:p.His503Arg | |
| ENST00000314490.15:c.521A>G | ENSP00000312694.12:p.His174Arg | |
| ENST00000341310.10:c.*556A>G | ENSP00000344473.6:n.*556A>G | |
| ENST00000361492.8:c.1508A>G | ENSP00000354586.4:p.His503Arg | |
| ENST00000435313.6:n.1482A>G | ||
| ENST00000437950.5:c.*607A>G | ENSP00000415773.1:n.*607A>G | |
| ENST00000438299.5:c.*607A>G | ENSP00000400593.1:n.*607A>G | |
| ENST00000445186.5:c.*607A>G | ENSP00000397488.1:n.*607A>G | |
| ENST00000452319.5:c.1508A>G | ENSP00000390436.1:p.His503Arg | |
| ENST00000452692.5:c.*556A>G | ENSP00000403715.1:n.*556A>G | |
| NM_005270.4:c.1508A>G | NP_005261.2:p.His503Arg | |
| XM_006712422.1:c.1457A>G | XP_006712485.1:p.His486Arg | |
| XM_011510969.1:c.1490A>G | XP_011509271.1:p.His497Arg | |
| XM_011510970.1:c.1367A>G | XP_011509272.1:p.His456Arg | |
| XM_011510971.1:c.1313A>G | XP_011509273.1:p.His438Arg | |
| XM_011510972.1:c.1313A>G | XP_011509274.1:p.His438Arg | |
| XM_011510973.1:c.1133A>G | XP_011509275.1:p.His378Arg | |
| XM_011510974.1:c.1082A>G | XP_011509276.1:p.His361Arg | |
| XM_006712422.3:c.1457A>G | XP_006712485.1:p.His486Arg | |
| XM_011510969.2:c.1760A>G | XP_011509271.2:p.His587Arg | |
| XM_011510970.2:c.1367A>G | XP_011509272.1:p.His456Arg | |
| XM_011510971.2:c.1313A>G | XP_011509273.1:p.His438Arg | |
| XM_011510972.2:c.1409A>G | XP_011509274.2:p.His470Arg | |
| XM_011510973.2:c.1133A>G | XP_011509275.1:p.His378Arg | |
| XM_011510974.2:c.1082A>G | XP_011509276.1:p.His361Arg | |
| XM_017003818.1:c.1709A>G | XP_016859307.1:p.His570Arg | |
| XM_024452794.1:c.1508A>G | XP_024308562.1:p.His503Arg | |
| XM_024452795.1:c.1508A>G | XP_024308563.1:p.His503Arg | |
| NM_001371271.1:c.1508A>G | NP_001358200.1:p.His503Arg | |
| NM_001374353.1:c.1457A>G MANE Select | NP_001361282.1:p.His486Arg | |
| NM_001374354.1:c.1082A>G | NP_001361283.1:p.His361Arg | |
| NM_005270.5:c.1508A>G | NP_005261.2:p.His503Arg |