Linked Data
ClinVar Variation Id:
204067
ClinVar RCV Id:
RCV000186273
dbSNP Id:
rs796052057
gnomAD v2:
2-241808304-G-C
gnomAD v4:
2-240868887-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240868887G>C , CM000664.2:g.240868887G>C | GRCh38 |
| NC_000002.11:g.241808304G>C , CM000664.1:g.241808304G>C | GRCh37 |
| NC_000002.10:g.241456977G>C | NCBI36 |
| NG_008005.1:g.5143G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.22G>C MANE Select | ENSP00000302620.3:p.Val8Leu | |
| ENST00000307503.3:c.22G>C | ENSP00000302620.3:p.Val8Leu | |
| ENST00000472436.1:n.42G>C | ||
| NM_000030.2:c.22G>C | NP_000021.1:p.Val8Leu | |
| XR_924060.1:n.405+1346C>G | ||
| NM_000030.3:c.22G>C MANE Select | NP_000021.1:p.Val8Leu |