Linked Data
dbSNP Id:
rs906449435
gnomAD v2:
1-94512821-G-A
gnomAD v3:
1-94047265-G-A
gnomAD v4:
1-94047265-G-A
PubMed:
PMID:28263302
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94047265G>A , CM000663.2:g.94047265G>A | GRCh38 |
| NC_000001.10:g.94512821G>A , CM000663.1:g.94512821G>A | GRCh37 |
| NC_000001.9:g.94285409G>A | NCBI36 |
| NG_009073.1:g.78885C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.2744-172C>T MANE Select | ENSP00000359245.3:n.2744-172C>T | |
| ENST00000649773.1:c.2522-172C>T | ENSP00000496882.1:n.2522-172C>T | |
| ENST00000370225.3:c.2744-172C>T | ENSP00000359245.3:n.2744-172C>T | |
| ENST00000536513.5:c.-64-7176C>T | ENSP00000439707.2:n.-64-7176C>T | |
| NM_000350.2:c.2744-172C>T | NP_000341.2:n.2744-172C>T | |
| NM_000350.3:c.2744-172C>T MANE Select | NP_000341.2:n.2744-172C>T |