Linked Data
ClinVar Variation Id:
1227606
ClinVar RCV Id:
RCV001611588
dbSNP Id:
rs11687303
gnomAD v2:
2-241812697-G-C
gnomAD v3:
2-240873280-G-C
gnomAD v4:
2-240873280-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240873280G>C , CM000664.2:g.240873280G>C | GRCh38 |
| NC_000002.11:g.241812697G>C , CM000664.1:g.241812697G>C | GRCh37 |
| NC_000002.10:g.241461370G>C | NCBI36 |
| NG_008005.1:g.9536G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.595+231G>C MANE Select | ENSP00000302620.3:n.595+231G>C | |
| ENST00000307503.3:c.595+231G>C | ENSP00000302620.3:n.595+231G>C | |
| ENST00000472436.1:n.846G>C | ||
| ENST00000476698.1:n.332+231G>C | ||
| NM_000030.2:c.595+231G>C | NP_000021.1:n.595+231G>C | |
| NM_000030.3:c.595+231G>C MANE Select | NP_000021.1:n.595+231G>C |