Linked Data
ClinVar Variation Id:
2066896
ClinVar RCV Id:
RCV002943631
dbSNP Id:
rs768871277
ExAC:
2:25965159 C / G
gnomAD v2:
2-25965159-C-G
gnomAD v4:
2-25742290-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.25742290C>G , CM000664.2:g.25742290C>G | GRCh38 |
| NC_000002.11:g.25965159C>G , CM000664.1:g.25965159C>G | GRCh37 |
| NC_000002.10:g.25818663C>G | NCBI36 |
| NG_052995.1:g.141227G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336112.9:c.4044G>C | ENSP00000337250.5:p.Gln1348His | |
| ENST00000435504.9:c.4047G>C MANE Select | ENSP00000391447.3:p.Gln1349His | |
| ENST00000336112.8:c.3963G>C | ENSP00000337250.4:p.Gln1321His | |
| ENST00000404843.5:c.2496G>C | ENSP00000383920.1:p.Gln832His | |
| ENST00000435504.8:c.4047G>C | ENSP00000391447.3:p.Gln1349His | |
| NM_018263.4:c.4047G>C | NP_060733.4:p.Gln1349His | |
| XM_006712039.2:c.3681G>C | XP_006712102.1:p.Gln1227His | |
| XM_006712040.1:c.3267G>C | XP_006712103.1:p.Gln1089His | |
| XM_011532950.1:c.4044G>C | XP_011531252.1:p.Gln1348His | |
| XM_011532951.1:c.3873G>C | XP_011531253.1:p.Gln1291His | |
| NM_018263.5:c.4047G>C | NP_060733.4:p.Gln1349His | |
| XM_006712039.3:c.3681G>C | XP_006712102.1:p.Gln1227His | |
| XM_006712040.2:c.3267G>C | XP_006712103.1:p.Gln1089His | |
| XM_011532950.3:c.4044G>C | XP_011531252.1:p.Gln1348His | |
| XM_011532951.2:c.3873G>C | XP_011531253.1:p.Gln1291His | |
| XM_017004430.1:c.3267G>C | XP_016859919.1:p.Gln1089His | |
| XM_024452974.1:c.4227G>C | XP_024308742.1:p.Gln1409His | |
| NM_001369346.1:c.3873G>C | NP_001356275.1:p.Gln1291His | |
| NM_001369347.1:c.3267G>C | NP_001356276.1:p.Gln1089His | |
| NM_018263.6:c.4047G>C MANE Select | NP_060733.4:p.Gln1349His |