Linked Data
ClinVar Variation Id:
452984
dbSNP Id:
rs112385654
ExAC:
15:28478342 C / T
gnomAD v2:
15-28478342-C-T
gnomAD v3:
15-28233196-C-T
gnomAD v4:
15-28233196-C-T
COSMIC:
COSM4053862
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.28233196C>T , CM000677.2:g.28233196C>T | GRCh38 |
| NC_000015.9:g.28478342C>T , CM000677.1:g.28478342C>T | GRCh37 |
| NC_000015.8:g.26151937C>T | NCBI36 |
| NG_016355.1:g.93954G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261609.13:c.4625G>A MANE Select | ENSP00000261609.8:p.Arg1542His | |
| ENST00000261609.11:c.4625G>A | ENSP00000261609.7:p.Arg1542His | |
| NM_004667.5:c.4625G>A | NP_004658.3:p.Arg1542His | |
| XM_005268276.3:c.4511G>A | XP_005268333.1:p.Arg1504His | |
| XM_005268277.3:c.4511G>A | XP_005268334.1:p.Arg1504His | |
| XM_006720726.2:c.4610G>A | XP_006720789.1:p.Arg1537His | |
| XM_006720727.2:c.4367G>A | XP_006720790.1:p.Arg1456His | |
| XM_011522131.1:c.4142G>A | XP_011520433.1:p.Arg1381His | |
| XM_011522132.1:c.2141G>A | XP_011520434.1:p.Arg714His | |
| XM_011522133.1:c.1370G>A | XP_011520435.1:p.Arg457His | |
| XM_011522135.1:c.4625G>A | XP_011520437.1:p.Arg1542His | |
| XM_011522136.1:c.4625G>A | XP_011520438.1:p.Arg1542His | |
| XM_011522137.1:c.4625G>A | XP_011520439.1:p.Arg1542His | |
| XR_931930.1:n.4754G>A | ||
| XR_931931.1:n.4754G>A | ||
| XM_005268276.5:c.4511G>A | XP_005268333.1:p.Arg1504His | |
| XM_006720726.3:c.4610G>A | XP_006720789.1:p.Arg1537His | |
| XM_006720727.3:c.4367G>A | XP_006720790.1:p.Arg1456His | |
| XM_017022695.1:c.4511G>A | XP_016878184.1:p.Arg1504His | |
| XM_017022696.1:c.4511G>A | XP_016878185.1:p.Arg1504His | |
| XR_001751410.1:n.4755G>A | ||
| XR_931930.2:n.4755G>A | ||
| NM_004667.6:c.4625G>A MANE Select | NP_004658.3:p.Arg1542His |