Linked Data
ClinVar Variation Id:
2918846
ClinVar RCV Id:
RCV003739178
dbSNP Id:
rs1013752765
gnomAD v2:
8-87645140-T-C
gnomAD v4:
8-86632912-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86632912T>C , CM000670.2:g.86632912T>C | GRCh38 |
| NC_000008.10:g.87645140T>C , CM000670.1:g.87645140T>C | GRCh37 |
| NC_000008.9:g.87714256T>C | NCBI36 |
| NG_016980.1:g.115764A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.1179-19A>G MANE Select | ENSP00000316605.5:n.1179-19A>G | |
| ENST00000681546.1:n.999-19A>G | ||
| ENST00000681746.1:c.1179-19A>G | ENSP00000505959.1:n.1179-19A>G | |
| ENST00000320005.5:c.1179-19A>G | ENSP00000316605.5:n.1179-19A>G | |
| NM_019098.4:c.1179-19A>G | NP_061971.3:n.1179-19A>G | |
| XM_011517138.1:c.765-19A>G | XP_011515440.1:n.765-19A>G | |
| XM_011517138.2:c.765-19A>G | XP_011515440.1:n.765-19A>G | |
| NM_019098.5:c.1179-19A>G MANE Select | NP_061971.3:n.1179-19A>G |