Linked Data
dbSNP Id:
rs202116444
ExAC:
15:48779225 A / C
gnomAD v2:
15-48779225-A-C
gnomAD v3:
15-48487028-A-C
gnomAD v4:
15-48487028-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48487028A>C , CM000677.2:g.48487028A>C | GRCh38 |
| NC_000015.9:g.48779225A>C , CM000677.1:g.48779225A>C | GRCh37 |
| NC_000015.8:g.46566517A>C | NCBI36 |
| NG_008805.2:g.163761T>G , LRG_778:g.163761T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.3589+47T>G | ENSP00000453958.2:n.3589+47T>G | |
| ENST00000674301.2:c.3589+47T>G | ENSP00000501333.2:n.3589+47T>G | |
| ENST00000684448.1:n.2263+47T>G | ||
| ENST00000316623.10:c.3589+47T>G MANE Select | ENSP00000325527.5:n.3589+47T>G | |
| ENST00000316623.9:c.3589+47T>G | ENSP00000325527.5:n.3589+47T>G | |
| ENST00000537463.6:c.637-12378T>G | ENSP00000440294.2:n.637-12378T>G | |
| NM_000138.4:c.3589+47T>G , LRG_778t1:c.3589+47T>G | NP_000129.3:n.3589+47T>G | |
| NM_000138.5:c.3589+47T>G MANE Select | NP_000129.3:n.3589+47T>G |