Linked Data
ClinVar Variation Id:
1489535
ClinVar RCV Id:
RCV001978337
dbSNP Id:
rs770305929
gnomAD v3:
8-54627693-A-C
gnomAD v4:
8-54627693-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.54627693A>C , CM000670.2:g.54627693A>C | GRCh38 |
| NC_000008.10:g.55540253A>C , CM000670.1:g.55540253A>C | GRCh37 |
| NC_000008.9:g.55702806A>C | NCBI36 |
| NG_009840.1:g.16627A>C | |
| NG_009840.2:g.16627A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220676.2:c.3811A>C MANE Select | ENSP00000220676.1:p.Lys1271Gln | |
| ENST00000636932.1:c.787+5405A>C | ENSP00000489857.1:n.787+5405A>C | |
| ENST00000637698.1:c.787+5405A>C | ENSP00000490104.1:n.787+5405A>C | |
| ENST00000220676.1:c.3811A>C | ENSP00000220676.1:p.Lys1271Gln | |
| NM_006269.1:c.3811A>C | NP_006260.1:p.Lys1271Gln | |
| XM_017013721.1:c.3832A>C | XP_016869210.1:p.Lys1278Gln | |
| XM_017013722.1:c.3811A>C | XP_016869211.1:p.Lys1271Gln | |
| NM_001375654.1:c.787+5405A>C | NP_001362583.1:n.787+5405A>C | |
| NM_006269.2:c.3811A>C MANE Select | NP_006260.1:p.Lys1271Gln |