Linked Data
ClinVar Variation Id:
1313688
ClinVar RCV Id:
RCV001764052
dbSNP Id:
rs2151299196
gnomAD v4:
16-3727937-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3727937C>A , CM000678.2:g.3727937C>A | GRCh38 |
| NC_000016.9:g.3777938C>A , CM000678.1:g.3777938C>A | GRCh37 |
| NC_000016.8:g.3717939C>A | NCBI36 |
| NG_009873.1:g.157184G>T | |
| NG_009873.2:g.157777G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.7110G>T MANE Select | ENSP00000262367.5:p.Gln2370His | |
| ENST00000262367.9:c.7110G>T | ENSP00000262367.5:p.Gln2370His | |
| ENST00000382070.7:c.6996G>T | ENSP00000371502.3:p.Gln2332His | |
| NM_001079846.1:c.6996G>T | NP_001073315.1:p.Gln2332His | |
| NM_004380.2:c.7110G>T | NP_004371.2:p.Gln2370His | |
| XM_005255124.3:c.7065G>T | XP_005255181.1:p.Gln2355His | |
| XM_005255125.3:c.6693G>T | XP_005255182.1:p.Gln2231His | |
| XM_006720848.2:c.6849G>T | XP_006720911.1:p.Gln2283His | |
| XM_011522380.1:c.7056G>T | XP_011520682.1:p.Gln2352His | |
| XM_011522381.1:c.6357G>T | XP_011520683.1:p.Gln2119His | |
| XM_005255124.4:c.7065G>T | XP_005255181.1:p.Gln2355His | |
| XM_005255125.4:c.6693G>T | XP_005255182.1:p.Gln2231His | |
| XM_006720848.3:c.6849G>T | XP_006720911.1:p.Gln2283His | |
| XM_011522381.2:c.6357G>T | XP_011520683.1:p.Gln2119His | |
| XM_017022944.1:c.7104G>T | XP_016878433.1:p.Gln2368His | |
| NM_004380.3:c.7110G>T MANE Select | NP_004371.2:p.Gln2370His |