Linked Data
dbSNP Id:
rs754874525
ExAC:
1:94508500 G / A
gnomAD v2:
1-94508500-G-A
gnomAD v4:
1-94042944-G-A
COSMIC:
COSN26584508
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94042944G>A , CM000663.2:g.94042944G>A | GRCh38 |
| NC_000001.10:g.94508500G>A , CM000663.1:g.94508500G>A | GRCh37 |
| NC_000001.9:g.94281088G>A | NCBI36 |
| NG_009073.1:g.83206C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.3191-46C>T MANE Select | ENSP00000359245.3:n.3191-46C>T | |
| ENST00000370225.3:c.3191-46C>T | ENSP00000359245.3:n.3191-46C>T | |
| ENST00000536513.5:c.-64-2855C>T | ENSP00000439707.2:n.-64-2855C>T | |
| NM_000350.2:c.3191-46C>T | NP_000341.2:n.3191-46C>T | |
| NM_000350.3:c.3191-46C>T MANE Select | NP_000341.2:n.3191-46C>T |