Linked Data
ClinVar Variation Id:
197447
ClinVar RCV Id:
RCV000178475
RCV000504696
RCV000669197
RCV001075871
RCV001542728
RCV003422073
RCV003445607
dbSNP Id:
rs201657446
gnomAD v2:
1-216062399-G-C
gnomAD v3:
1-215889057-G-C
gnomAD v4:
1-215889057-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215889057G>C , CM000663.2:g.215889057G>C | GRCh38 |
| NC_000001.10:g.216062399G>C , CM000663.1:g.216062399G>C | GRCh37 |
| NC_000001.9:g.214129022G>C | NCBI36 |
| NG_009497.1:g.539340C>G | |
| NG_009497.2:g.539392C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307340.8:c.7595-3C>G MANE Select | ENSP00000305941.3:n.7595-3C>G | |
| ENST00000674083.1:c.7595-3C>G | ENSP00000501296.1:n.7595-3C>G | |
| ENST00000307340.7:c.7595-3C>G | ENSP00000305941.3:n.7595-3C>G | |
| NM_206933.2:c.7595-3C>G | NP_996816.2:n.7595-3C>G | |
| NM_206933.3:c.7595-3C>G | NP_996816.2:n.7595-3C>G | |
| NM_206933.4:c.7595-3C>G MANE Select | NP_996816.3:n.7595-3C>G |