Linked Data
ClinVar Variation Id:
421305
ClinVar RCV Id:
RCV000486199
dbSNP Id:
rs1064795047
gnomAD v2:
1-216062398-T-C
gnomAD v4:
1-215889056-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215889056T>C , CM000663.2:g.215889056T>C | GRCh38 |
| NC_000001.10:g.216062398T>C , CM000663.1:g.216062398T>C | GRCh37 |
| NC_000001.9:g.214129021T>C | NCBI36 |
| NG_009497.1:g.539341A>G | |
| NG_009497.2:g.539393A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307340.8:c.7595-2A>G MANE Select | ENSP00000305941.3:n.7595-2A>G | |
| ENST00000674083.1:c.7595-2A>G | ENSP00000501296.1:n.7595-2A>G | |
| ENST00000307340.7:c.7595-2A>G | ENSP00000305941.3:n.7595-2A>G | |
| NM_206933.2:c.7595-2A>G | NP_996816.2:n.7595-2A>G | |
| NM_206933.3:c.7595-2A>G | NP_996816.2:n.7595-2A>G | |
| NM_206933.4:c.7595-2A>G MANE Select | NP_996816.3:n.7595-2A>G |