Linked Data
ClinVar Variation Id:
1383623
dbSNP Id:
rs572342520
ExAC:
2:25965358 C / T
gnomAD v2:
2-25965358-C-T
gnomAD v3:
2-25742489-C-T
gnomAD v4:
2-25742489-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.25742489C>T , CM000664.2:g.25742489C>T | GRCh38 |
| NC_000002.11:g.25965358C>T , CM000664.1:g.25965358C>T | GRCh37 |
| NC_000002.10:g.25818862C>T | NCBI36 |
| NG_052995.1:g.141028G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336112.9:c.3845G>A | ENSP00000337250.5:p.Arg1282His | |
| ENST00000435504.9:c.3848G>A MANE Select | ENSP00000391447.3:p.Arg1283His | |
| ENST00000336112.8:c.3764G>A | ENSP00000337250.4:p.Arg1255His | |
| ENST00000404843.5:c.2297G>A | ENSP00000383920.1:p.Arg766His | |
| ENST00000435504.8:c.3848G>A | ENSP00000391447.3:p.Arg1283His | |
| NM_018263.4:c.3848G>A | NP_060733.4:p.Arg1283His | |
| XM_006712039.2:c.3482G>A | XP_006712102.1:p.Arg1161His | |
| XM_006712040.1:c.3068G>A | XP_006712103.1:p.Arg1023His | |
| XM_011532950.1:c.3845G>A | XP_011531252.1:p.Arg1282His | |
| XM_011532951.1:c.3674G>A | XP_011531253.1:p.Arg1225His | |
| NM_018263.5:c.3848G>A | NP_060733.4:p.Arg1283His | |
| XM_006712039.3:c.3482G>A | XP_006712102.1:p.Arg1161His | |
| XM_006712040.2:c.3068G>A | XP_006712103.1:p.Arg1023His | |
| XM_011532950.3:c.3845G>A | XP_011531252.1:p.Arg1282His | |
| XM_011532951.2:c.3674G>A | XP_011531253.1:p.Arg1225His | |
| XM_017004430.1:c.3068G>A | XP_016859919.1:p.Arg1023His | |
| XM_024452974.1:c.4028G>A | XP_024308742.1:p.Arg1343His | |
| NM_001369346.1:c.3674G>A | NP_001356275.1:p.Arg1225His | |
| NM_001369347.1:c.3068G>A | NP_001356276.1:p.Arg1023His | |
| NM_018263.6:c.3848G>A MANE Select | NP_060733.4:p.Arg1283His |