Linked Data
ClinVar Variation Id:
1488778
ClinVar RCV Id:
RCV001980309
dbSNP Id:
rs1275101391
gnomAD v4:
6-129481430-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.129481430G>C , CM000668.2:g.129481430G>C | GRCh38 |
| NC_000006.11:g.129802575G>C , CM000668.1:g.129802575G>C | GRCh37 |
| NC_000006.10:g.129844268G>C | NCBI36 |
| NG_008678.1:g.603290G>C , LRG_409:g.603290G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617695.5:c.7728G>C | ENSP00000481744.2:p.Gln2576His | |
| ENST00000618192.5:c.8004G>C | ENSP00000480802.2:p.Gln2668His | |
| ENST00000421865.3:c.7740G>C MANE Select | ENSP00000400365.2:p.Gln2580His | |
| ENST00000421865.2:c.7740G>C | ENSP00000400365.2:p.Gln2580His | |
| ENST00000617695.4:c.7728G>C | ENSP00000481744.1:p.Gln2576His | |
| ENST00000618192.4:c.7737G>C | ENSP00000480802.1:p.Gln2579His | |
| NM_000426.3:c.7740G>C , LRG_409t1:c.7740G>C | NP_000417.2:p.Gln2580His | |
| NM_001079823.1:c.7728G>C | NP_001073291.1:p.Gln2576His | |
| XM_005266981.2:c.8004G>C | XP_005267038.1:p.Gln2668His | |
| XM_005266982.2:c.7992G>C | XP_005267039.1:p.Gln2664His | |
| XM_011535820.1:c.7998G>C | XP_011534122.1:p.Gln2666His | |
| XM_005266981.3:c.8004G>C | XP_005267038.1:p.Gln2668His | |
| XM_005266982.3:c.7992G>C | XP_005267039.1:p.Gln2664His | |
| XM_011535820.2:c.7998G>C | XP_011534122.1:p.Gln2666His | |
| XM_017010851.2:c.8010G>C | XP_016866340.1:p.Gln2670His | |
| XM_017010852.1:c.6135G>C | XP_016866341.1:p.Gln2045His | |
| NM_000426.4:c.7740G>C MANE Select | NP_000417.3:p.Gln2580His | |
| NM_001079823.2:c.7728G>C | NP_001073291.2:p.Gln2576His |