Linked Data
dbSNP Id:
rs779439952
ExAC:
5:95765035 G / T
gnomAD v2:
5-95765035-G-T
gnomAD v4:
5-96429331-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.96429331G>T , CM000667.2:g.96429331G>T | GRCh38 |
| NC_000005.9:g.95765035G>T , CM000667.1:g.95765035G>T | GRCh37 |
| NC_000005.8:g.95790791G>T | NCBI36 |
| NG_021161.1:g.8951C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311106.8:c.181-14C>A MANE Select | ENSP00000308024.2:n.181-14C>A | |
| ENST00000311106.7:c.181-14C>A | ENSP00000308024.2:n.181-14C>A | |
| ENST00000508626.5:c.40-14C>A | ENSP00000421600.1:n.40-14C>A | |
| ENST00000509190.1:c.181-14C>A | ENSP00000427294.1:n.181-14C>A | |
| NM_000439.4:c.181-14C>A | NP_000430.3:n.181-14C>A | |
| NM_001177875.1:c.40-14C>A | NP_001171346.1:n.40-14C>A | |
| NR_130776.1:n.354+49679G>T | ||
| NM_000439.5:c.181-14C>A MANE Select | NP_000430.3:n.181-14C>A | |
| NM_001177875.2:c.40-14C>A | NP_001171346.1:n.40-14C>A |