Linked Data
ClinVar Variation Id:
500068
dbSNP Id:
rs749463699
ExAC:
2:38302391 G / C
gnomAD v2:
2-38302391-G-C
gnomAD v3:
2-38075248-G-C
gnomAD v4:
2-38075248-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.38075248G>C , CM000664.2:g.38075248G>C | GRCh38 |
| NC_000002.11:g.38302391G>C , CM000664.1:g.38302391G>C | GRCh37 |
| NC_000002.10:g.38155895G>C | NCBI36 |
| NG_008386.2:g.5854C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000490576.2:c.141C>G | ENSP00000478839.2:p.Leu47= | |
| ENST00000610745.5:c.141C>G MANE Select | ENSP00000478561.1:p.Leu47= | |
| ENST00000490576.1:c.141C>G | ENSP00000478839.1:p.Leu47= | |
| ENST00000494864.1:c.-70-3938C>G | ENSP00000479876.1:n.-70-3938C>G | |
| ENST00000610745.4:c.141C>G | ENSP00000478561.1:p.Leu47= | |
| ENST00000613082.1:n.375+532C>G | ||
| ENST00000614273.1:c.141C>G | ENSP00000483678.1:p.Leu47= | |
| NM_000104.3:c.141C>G | NP_000095.2:p.Leu47= | |
| NM_000104.4:c.141C>G MANE Select | NP_000095.2:p.Leu47= |