Linked Data
ClinVar Variation Id:
391599
dbSNP Id:
rs200654315
ExAC:
13:60348894 C / T
gnomAD v2:
13-60348894-C-T
gnomAD v3:
13-59774760-C-T
gnomAD v4:
13-59774760-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.59774760C>T , CM000675.2:g.59774760C>T | GRCh38 |
| NC_000013.10:g.60348894C>T , CM000675.1:g.60348894C>T | GRCh37 |
| NC_000013.9:g.59246895C>T | NCBI36 |
| NG_032693.1:g.394226G>A | |
| NG_032693.2:g.394226G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400324.9:c.3227G>A MANE Select | ENSP00000383178.3:p.Arg1076His | |
| ENST00000267215.8:c.3227G>A | ENSP00000267215.4:p.Arg1076His | |
| ENST00000377908.6:c.3194G>A | ENSP00000367141.2:p.Arg1065His | |
| ENST00000400319.5:c.3017G>A | ENSP00000383173.1:p.Arg1006His | |
| ENST00000400320.5:c.3089G>A | ENSP00000383174.1:p.Arg1030His | |
| ENST00000400324.8:c.3227G>A | ENSP00000383178.3:p.Arg1076His | |
| ENST00000465066.5:c.2438G>A | ENSP00000478137.1:p.Arg813His | |
| NM_001042517.1:c.3227G>A | NP_001035982.1:p.Arg1076His | |
| NM_001258366.1:c.3194G>A | NP_001245295.1:p.Arg1065His | |
| NM_001258367.1:c.3089G>A | NP_001245296.1:p.Arg1030His | |
| NM_001258368.1:c.3017G>A | NP_001245297.1:p.Arg1006His | |
| NM_001258369.1:c.3227G>A | NP_001245298.1:p.Arg1076His | |
| NM_030932.3:c.2438G>A | NP_112194.2:p.Arg813His | |
| XM_006719876.1:c.2438G>A | XP_006719939.1:p.Arg813His | |
| XM_011535258.1:c.3227G>A | XP_011533560.1:p.Arg1076His | |
| XM_011535259.1:c.3227G>A | XP_011533561.1:p.Arg1076His | |
| XM_011535260.1:c.3227G>A | XP_011533562.1:p.Arg1076His | |
| XM_011535261.1:c.3017G>A | XP_011533563.1:p.Arg1006His | |
| XM_011535262.1:c.2438G>A | XP_011533564.1:p.Arg813His | |
| XR_941672.1:n.3389G>A | ||
| XM_011535258.2:c.3227G>A | XP_011533560.1:p.Arg1076His | |
| XM_024449422.1:c.3227G>A | XP_024305190.1:p.Arg1076His | |
| XR_002957477.1:n.3389G>A | ||
| XR_002957478.1:n.3389G>A | ||
| XR_002957479.1:n.3389G>A | ||
| XR_002957480.1:n.3389G>A | ||
| NM_001042517.2:c.3227G>A MANE Select | NP_001035982.1:p.Arg1076His | |
| NM_001258366.2:c.3194G>A | NP_001245295.1:p.Arg1065His | |
| NM_001258367.2:c.3089G>A | NP_001245296.1:p.Arg1030His | |
| NM_001258368.2:c.3017G>A | NP_001245297.1:p.Arg1006His | |
| NM_001258369.2:c.3227G>A | NP_001245298.1:p.Arg1076His | |
| NM_030932.4:c.2438G>A | NP_112194.2:p.Arg813His |