Linked Data
ClinVar Variation Id:
376387
ClinVar RCV Id:
RCV000420453
RCV000424559
RCV000425211
RCV000425657
RCV000432858
RCV000433580
RCV000435262
RCV000437565
RCV000441892
RCV000441923
RCV000443540
dbSNP Id:
rs1057519884
gnomAD v4:
16-3738616-C-T
COSMIC:
COSM88748
PubMed:
PMID:26619011
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3738616C>T , CM000678.2:g.3738616C>T | GRCh38 |
| NC_000016.9:g.3788617C>T , CM000678.1:g.3788617C>T | GRCh37 |
| NC_000016.8:g.3728618C>T | NCBI36 |
| NG_009873.1:g.146505G>A | |
| NG_009873.2:g.147098G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262367.10:c.4337G>A MANE Select | ENSP00000262367.5:p.Arg1446His | |
| ENST00000262367.9:c.4337G>A | ENSP00000262367.5:p.Arg1446His | |
| ENST00000382070.7:c.4223G>A | ENSP00000371502.3:p.Arg1408His | |
| ENST00000570939.2:c.2972G>A | ENSP00000461002.2:p.Arg991His | |
| ENST00000574740.1:n.215+1783G>A | ||
| ENST00000576720.1:n.3217+962G>A | ||
| NM_001079846.1:c.4223G>A | NP_001073315.1:p.Arg1408His | |
| NM_004380.2:c.4337G>A | NP_004371.2:p.Arg1446His | |
| XM_005255124.3:c.4292G>A | XP_005255181.1:p.Arg1431His | |
| XM_005255125.3:c.3920G>A | XP_005255182.1:p.Arg1307His | |
| XM_006720848.2:c.4133+1783G>A | XP_006720911.1:n.4133+1783G>A | |
| XM_011522380.1:c.4283G>A | XP_011520682.1:p.Arg1428His | |
| XM_011522381.1:c.3584G>A | XP_011520683.1:p.Arg1195His | |
| XM_005255124.4:c.4292G>A | XP_005255181.1:p.Arg1431His | |
| XM_005255125.4:c.3920G>A | XP_005255182.1:p.Arg1307His | |
| XM_006720848.3:c.4133+1783G>A | XP_006720911.1:n.4133+1783G>A | |
| XM_011522381.2:c.3584G>A | XP_011520683.1:p.Arg1195His | |
| XM_017022944.1:c.4331G>A | XP_016878433.1:p.Arg1444His | |
| NM_004380.3:c.4337G>A MANE Select | NP_004371.2:p.Arg1446His |