Linked Data
ClinVar Variation Id:
1147603
ClinVar RCV Id:
RCV001487211
dbSNP Id:
rs752064358
ExAC:
9:133364841 G / A
gnomAD v2:
9-133364841-G-A
gnomAD v4:
9-130489454-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130489454G>A , CM000671.2:g.130489454G>A | GRCh38 |
| NC_000009.11:g.133364841G>A , CM000671.1:g.133364841G>A | GRCh37 |
| NC_000009.10:g.132354662G>A | NCBI36 |
| NG_011542.1:g.49748G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352480.10:c.960G>A MANE Select | ENSP00000253004.6:p.Leu320= | |
| ENST00000352480.9:c.960G>A | ENSP00000253004.6:p.Leu320= | |
| ENST00000372386.6:n.231G>A | ||
| ENST00000372393.7:c.960G>A | ENSP00000361469.2:p.Leu320= | |
| ENST00000372394.5:c.960G>A | ENSP00000361471.1:p.Leu320= | |
| NM_000050.4:c.960G>A | NP_000041.2:p.Leu320= | |
| NM_054012.3:c.960G>A | NP_446464.1:p.Leu320= | |
| XM_005272200.2:c.960G>A | XP_005272257.1:p.Leu320= | |
| XM_011518705.1:c.1074G>A | XP_011517007.1:p.Leu358= | |
| XM_005272200.3:c.960G>A | XP_005272257.1:p.Leu320= | |
| XM_011518705.2:c.1074G>A | XP_011517007.1:p.Leu358= | |
| XM_017014729.1:c.1056G>A | XP_016870218.1:p.Leu352= | |
| NM_054012.4:c.960G>A MANE Select | NP_446464.1:p.Leu320= |