Linked Data
ClinVar Variation Id:
6339
dbSNP Id:
rs121908648
ExAC:
9:133364809 A / C
gnomAD v2:
9-133364809-A-C
gnomAD v4:
9-130489422-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130489422A>C , CM000671.2:g.130489422A>C | GRCh38 |
| NC_000009.11:g.133364809A>C , CM000671.1:g.133364809A>C | GRCh37 |
| NC_000009.10:g.132354630A>C | NCBI36 |
| NG_011542.1:g.49716A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352480.10:c.928A>C MANE Select | ENSP00000253004.6:p.Lys310Gln | |
| ENST00000352480.9:c.928A>C | ENSP00000253004.6:p.Lys310Gln | |
| ENST00000372386.6:n.199A>C | ||
| ENST00000372393.7:c.928A>C | ENSP00000361469.2:p.Lys310Gln | |
| ENST00000372394.5:c.928A>C | ENSP00000361471.1:p.Lys310Gln | |
| ENST00000492400.5:n.437A>C | ||
| NM_000050.4:c.928A>C | NP_000041.2:p.Lys310Gln | |
| NM_054012.3:c.928A>C | NP_446464.1:p.Lys310Gln | |
| XM_005272200.2:c.928A>C | XP_005272257.1:p.Lys310Gln | |
| XM_011518705.1:c.1042A>C | XP_011517007.1:p.Lys348Gln | |
| XM_005272200.3:c.928A>C | XP_005272257.1:p.Lys310Gln | |
| XM_011518705.2:c.1042A>C | XP_011517007.1:p.Lys348Gln | |
| XM_017014729.1:c.1024A>C | XP_016870218.1:p.Lys342Gln | |
| NM_054012.4:c.928A>C MANE Select | NP_446464.1:p.Lys310Gln |