Linked Data
ClinVar Variation Id:
471315
dbSNP Id:
rs138472236
ExAC:
2:71891541 G / A
gnomAD v2:
2-71891541-G-A
gnomAD v3:
2-71664411-G-A
gnomAD v4:
2-71664411-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.71664411G>A , CM000664.2:g.71664411G>A | GRCh38 |
| NC_000002.11:g.71891541G>A , CM000664.1:g.71891541G>A | GRCh37 |
| NC_000002.10:g.71745049G>A | NCBI36 |
| NG_008694.1:g.215789G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698057.1:c.2561G>A | ENSP00000513536.1:p.Arg854His | |
| ENST00000698058.1:c.1778G>A | ENSP00000513537.1:p.Arg593His | |
| ENST00000698059.1:c.1886G>A | ENSP00000513538.1:p.Arg629His | |
| ENST00000258104.8:c.5030G>A MANE Plus Clinical | ENSP00000258104.3:p.Arg1677His | |
| ENST00000410020.8:c.5147G>A MANE Select | ENSP00000386881.3:p.Arg1716His | |
| ENST00000258104.7:c.5030G>A | ENSP00000258104.3:p.Arg1677His | |
| ENST00000394120.6:c.5033G>A | ENSP00000377678.2:p.Arg1678His | |
| ENST00000409366.5:c.5096G>A | ENSP00000386512.1:p.Arg1699His | |
| ENST00000409582.7:c.5144G>A | ENSP00000386547.3:p.Arg1715His | |
| ENST00000409651.5:c.5126G>A | ENSP00000386683.1:p.Arg1709His | |
| ENST00000409744.5:c.5054G>A | ENSP00000386285.1:p.Arg1685His | |
| ENST00000409762.5:c.5081G>A | ENSP00000387137.1:p.Arg1694His | |
| ENST00000410020.7:c.5147G>A | ENSP00000386881.3:p.Arg1716His | |
| ENST00000410041.1:c.5084G>A | ENSP00000386617.1:p.Arg1695His | |
| ENST00000413539.6:c.5123G>A | ENSP00000407046.2:p.Arg1708His | |
| ENST00000429174.6:c.5093G>A | ENSP00000398305.2:p.Arg1698His | |
| ENST00000479049.6:n.1915G>A | ||
| NM_001130455.1:c.5033G>A | NP_001123927.1:p.Arg1678His | |
| NM_001130976.1:c.4988G>A | NP_001124448.1:p.Arg1663His | |
| NM_001130977.1:c.5051G>A | NP_001124449.1:p.Arg1684His | |
| NM_001130978.1:c.5093G>A | NP_001124450.1:p.Arg1698His | |
| NM_001130979.1:c.5123G>A | NP_001124451.1:p.Arg1708His | |
| NM_001130980.1:c.5081G>A | NP_001124452.1:p.Arg1694His | |
| NM_001130981.1:c.5144G>A | NP_001124453.1:p.Arg1715His | |
| NM_001130982.1:c.5126G>A | NP_001124454.1:p.Arg1709His | |
| NM_001130983.1:c.5096G>A | NP_001124455.1:p.Arg1699His | |
| NM_001130984.1:c.5054G>A | NP_001124456.1:p.Arg1685His | |
| NM_001130985.1:c.5084G>A | NP_001124457.1:p.Arg1695His | |
| NM_001130986.1:c.4991G>A | NP_001124458.1:p.Arg1664His | |
| NM_001130987.1:c.5147G>A | NP_001124459.1:p.Arg1716His | |
| NM_003494.3:c.5030G>A | NP_003485.1:p.Arg1677His | |
| XM_005264584.3:c.5189G>A | XP_005264641.1:p.Arg1730His | |
| XM_005264585.3:c.5186G>A | XP_005264642.1:p.Arg1729His | |
| XM_005264584.4:c.5189G>A | XP_005264641.1:p.Arg1730His | |
| XM_005264585.5:c.5186G>A | XP_005264642.1:p.Arg1729His | |
| XR_001738969.1:n.5347G>A | ||
| NM_001130987.2:c.5147G>A MANE Select | NP_001124459.1:p.Arg1716His | |
| NM_001130455.2:c.5033G>A | NP_001123927.1:p.Arg1678His | |
| NM_001130976.2:c.4988G>A | NP_001124448.1:p.Arg1663His | |
| NM_001130977.2:c.5051G>A | NP_001124449.1:p.Arg1684His | |
| NM_001130978.2:c.5093G>A | NP_001124450.1:p.Arg1698His | |
| NM_001130979.2:c.5123G>A | NP_001124451.1:p.Arg1708His | |
| NM_001130980.2:c.5081G>A | NP_001124452.1:p.Arg1694His | |
| NM_001130981.2:c.5144G>A | NP_001124453.1:p.Arg1715His | |
| NM_001130982.2:c.5126G>A | NP_001124454.1:p.Arg1709His | |
| NM_001130983.2:c.5096G>A | NP_001124455.1:p.Arg1699His | |
| NM_001130984.2:c.5054G>A | NP_001124456.1:p.Arg1685His | |
| NM_001130985.2:c.5084G>A | NP_001124457.1:p.Arg1695His | |
| NM_001130986.2:c.4991G>A | NP_001124458.1:p.Arg1664His | |
| NM_003494.4:c.5030G>A MANE Plus Clinical | NP_003485.1:p.Arg1677His |