Linked Data
ClinVar Variation Id:
1618759
ClinVar RCV Id:
RCV002082160
dbSNP Id:
rs2118864322
gnomAD v4:
9-130489433-G-C
MyVariant Identifiers:
chr9:g.133364820G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130489433G>C , CM000671.2:g.130489433G>C | GRCh38 |
| NC_000009.11:g.133364820G>C , CM000671.1:g.133364820G>C | GRCh37 |
| NC_000009.10:g.132354641G>C | NCBI36 |
| NG_011542.1:g.49727G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352480.10:c.939G>C MANE Select | ENSP00000253004.6:p.Leu313= | |
| ENST00000352480.9:c.939G>C | ENSP00000253004.6:p.Leu313= | |
| ENST00000372386.6:n.210G>C | ||
| ENST00000372393.7:c.939G>C | ENSP00000361469.2:p.Leu313= | |
| ENST00000372394.5:c.939G>C | ENSP00000361471.1:p.Leu313= | |
| NM_000050.4:c.939G>C | NP_000041.2:p.Leu313= | |
| NM_054012.3:c.939G>C | NP_446464.1:p.Leu313= | |
| XM_005272200.2:c.939G>C | XP_005272257.1:p.Leu313= | |
| XM_011518705.1:c.1053G>C | XP_011517007.1:p.Leu351= | |
| XM_005272200.3:c.939G>C | XP_005272257.1:p.Leu313= | |
| XM_011518705.2:c.1053G>C | XP_011517007.1:p.Leu351= | |
| XM_017014729.1:c.1035G>C | XP_016870218.1:p.Leu345= | |
| NM_054012.4:c.939G>C MANE Select | NP_446464.1:p.Leu313= |