Linked Data
dbSNP Id:
rs368450993
ExAC:
5:95734785 T / A
gnomAD v2:
5-95734785-T-A
gnomAD v3:
5-96399081-T-A
gnomAD v4:
5-96399081-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.96399081T>A , CM000667.2:g.96399081T>A | GRCh38 |
| NC_000005.9:g.95734785T>A , CM000667.1:g.95734785T>A | GRCh37 |
| NC_000005.8:g.95760541T>A | NCBI36 |
| NG_021161.1:g.39201A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311106.8:c.1431-45A>T MANE Select | ENSP00000308024.2:n.1431-45A>T | |
| ENST00000311106.7:c.1431-45A>T | ENSP00000308024.2:n.1431-45A>T | |
| ENST00000508626.5:c.1290-45A>T | ENSP00000421600.1:n.1290-45A>T | |
| ENST00000513085.1:n.574-45A>T | ||
| NM_000439.4:c.1431-45A>T | NP_000430.3:n.1431-45A>T | |
| NM_001177875.1:c.1290-45A>T | NP_001171346.1:n.1290-45A>T | |
| NR_130776.1:n.354+19429T>A | ||
| NM_000439.5:c.1431-45A>T MANE Select | NP_000430.3:n.1431-45A>T | |
| NM_001177875.2:c.1290-45A>T | NP_001171346.1:n.1290-45A>T |