Linked Data
ClinVar Variation Id:
2988516
ClinVar RCV Id:
RCV003846683
dbSNP Id:
rs72549382
gnomAD v2:
2-38301574-C-G
gnomAD v3:
2-38074431-C-G
gnomAD v4:
2-38074431-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.38074431C>G , CM000664.2:g.38074431C>G | GRCh38 |
| NC_000002.11:g.38301574C>G , CM000664.1:g.38301574C>G | GRCh37 |
| NC_000002.10:g.38155078C>G | NCBI36 |
| NG_008386.2:g.6671G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000490576.2:c.958G>C | ENSP00000478839.2:p.Val320Leu | |
| ENST00000610745.5:c.958G>C MANE Select | ENSP00000478561.1:p.Val320Leu | |
| ENST00000494864.1:c.-70-3121G>C | ENSP00000479876.1:n.-70-3121G>C | |
| ENST00000610745.4:c.958G>C | ENSP00000478561.1:p.Val320Leu | |
| ENST00000613082.1:n.376-23G>C | ||
| ENST00000614273.1:c.958G>C | ENSP00000483678.1:p.Val320Leu | |
| NM_000104.3:c.958G>C | NP_000095.2:p.Val320Leu | |
| NM_000104.4:c.958G>C MANE Select | NP_000095.2:p.Val320Leu |