Linked Data
dbSNP Id:
rs756655213
ExAC:
6:157470025 G / A
gnomAD v2:
6-157470025-G-A
gnomAD v3:
6-157148891-G-A
gnomAD v4:
6-157148891-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.157148891G>A , CM000668.2:g.157148891G>A | GRCh38 |
| NC_000006.11:g.157470025G>A , CM000668.1:g.157470025G>A | GRCh37 |
| NC_000006.10:g.157511717G>A | NCBI36 |
| NG_032093.1:g.375962G>A | |
| NG_032093.2:g.375962G>A | |
| NG_066624.1:g.377866G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350026.11:c.3029G>A | ENSP00000055163.8:p.Arg1010His | |
| ENST00000414678.8:c.2939G>A | ENSP00000412835.3:p.Arg980His | |
| ENST00000637015.2:c.3029G>A | ENSP00000489729.2:p.Arg1010His | |
| ENST00000319584.11:c.1043G>A | ENSP00000313006.7:p.Arg348His | |
| ENST00000346085.10:c.3068G>A | ENSP00000344546.5:p.Arg1023His | |
| ENST00000350026.10:c.2780G>A | ENSP00000055163.7:p.Arg927His | |
| ENST00000414678.7:c.1187G>A | ENSP00000412835.2:p.Arg396His | |
| ENST00000452544.2:n.930G>A | ||
| ENST00000635849.1:c.350G>A | ENSP00000490948.1:p.Arg117His | |
| ENST00000636426.1:n.163G>A | ||
| ENST00000636930.2:c.3029G>A MANE Select | ENSP00000490491.2:p.Arg1010His | |
| ENST00000637015.1:c.268G>A | ||
| ENST00000637568.1:c.72G>A | ||
| ENST00000637810.1:c.530G>A | ENSP00000489636.1:p.Arg177His | |
| ENST00000637904.1:c.530G>A | ENSP00000490550.1:p.Arg177His | |
| ENST00000647938.1:c.2819G>A | ENSP00000498155.1:p.Arg940His | |
| ENST00000674190.1:n.1778G>A | ||
| ENST00000319584.10:c.1046G>A | ENSP00000313006.6:p.Arg349His | |
| ENST00000346085.9:c.2819G>A | ENSP00000344546.4:p.Arg940His | |
| ENST00000350026.9:c.2780G>A | ENSP00000055163.7:p.Arg927His | |
| ENST00000414678.6:c.1187G>A | ENSP00000412835.2:p.Arg396His | |
| ENST00000452544.1:n.876G>A | ||
| ENST00000478761.3:c.102G>A | ||
| NM_017519.2:c.2780G>A | NP_059989.2:p.Arg927His | |
| NM_020732.3:c.2819G>A | NP_065783.3:p.Arg940His | |
| XM_005267069.3:c.2780G>A | XP_005267126.2:p.Arg927His | |
| XM_011535984.1:c.1730G>A | XP_011534286.1:p.Arg577His | |
| XM_011535985.1:c.1550G>A | XP_011534287.1:p.Arg517His | |
| XM_011535986.1:c.1310G>A | XP_011534288.1:p.Arg437His | |
| XM_011535987.1:c.929G>A | XP_011534289.1:p.Arg310His | |
| XM_011535988.1:c.-20+15684G>A | XP_011534290.1:n.-20+15684G>A | |
| NM_001346813.1:c.2780G>A | NP_001333742.1:p.Arg927His | |
| NM_001363725.1:c.530G>A | NP_001350654.1:p.Arg177His | |
| XM_011535984.2:c.2861G>A | XP_011534286.2:p.Arg954His | |
| XM_011535988.3:c.-20+15684G>A | XP_011534290.1:n.-20+15684G>A | |
| XM_017011103.2:c.2861G>A | XP_016866592.1:p.Arg954His | |
| XM_017011104.1:c.2861G>A | XP_016866593.1:p.Arg954His | |
| XM_017011105.2:c.2861G>A | XP_016866594.1:p.Arg954His | |
| XM_017011106.2:c.2861G>A | XP_016866595.1:p.Arg954His | |
| XM_017011107.2:c.2681G>A | XP_016866596.1:p.Arg894His | |
| XR_002956289.1:n.2944G>A | ||
| NM_001363725.2:c.530G>A | NP_001350654.1:p.Arg177His | |
| NM_001371656.1:c.3068G>A | NP_001358585.1:p.Arg1023His | |
| NM_001374820.1:c.3068G>A | NP_001361749.1:p.Arg1023His | |
| NM_001374828.1:c.3029G>A MANE Select | NP_001361757.1:p.Arg1010His | |
| NM_017519.3:c.3029G>A | NP_059989.3:p.Arg1010His |