Linked Data
ClinVar Variation Id:
2178665
ClinVar RCV Id:
RCV002588679
dbSNP Id:
rs564873042
gnomAD v2:
15-48797208-T-C
gnomAD v4:
15-48505011-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48505011T>C , CM000677.2:g.48505011T>C | GRCh38 |
| NC_000015.9:g.48797208T>C , CM000677.1:g.48797208T>C | GRCh37 |
| NC_000015.8:g.46584500T>C | NCBI36 |
| NG_008805.2:g.145778A>G , LRG_778:g.145778A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000559133.6:c.1960+14A>G | ENSP00000453958.2:n.1960+14A>G | |
| ENST00000674301.2:c.1960+14A>G | ENSP00000501333.2:n.1960+14A>G | |
| ENST00000684448.1:n.634+14A>G | ||
| ENST00000316623.10:c.1960+14A>G MANE Select | ENSP00000325527.5:n.1960+14A>G | |
| ENST00000316623.9:c.1960+14A>G | ENSP00000325527.5:n.1960+14A>G | |
| ENST00000537463.6:c.637-30361A>G | ENSP00000440294.2:n.637-30361A>G | |
| NM_000138.4:c.1960+14A>G , LRG_778t1:c.1960+14A>G | NP_000129.3:n.1960+14A>G | |
| NM_000138.5:c.1960+14A>G MANE Select | NP_000129.3:n.1960+14A>G |