Linked Data
ClinVar Variation Id:
896591
ClinVar RCV Id:
RCV001139349
dbSNP Id:
rs375712696
ExAC:
2:241808313 C / G
gnomAD v2:
2-241808313-C-G
gnomAD v3:
2-240868896-C-G
gnomAD v4:
2-240868896-C-G
COSMIC:
COSM442626
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240868896C>G , CM000664.2:g.240868896C>G | GRCh38 |
| NC_000002.11:g.241808313C>G , CM000664.1:g.241808313C>G | GRCh37 |
| NC_000002.10:g.241456986C>G | NCBI36 |
| NG_008005.1:g.5152C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.31C>G MANE Select | ENSP00000302620.3:p.Pro11Ala | |
| ENST00000307503.3:c.31C>G | ENSP00000302620.3:p.Pro11Ala | |
| ENST00000472436.1:n.51C>G | ||
| NM_000030.2:c.31C>G | NP_000021.1:p.Pro11Ala | |
| XR_924060.1:n.405+1337G>C | ||
| NM_000030.3:c.31C>G MANE Select | NP_000021.1:p.Pro11Ala |