Linked Data
dbSNP Id:
rs963604014
gnomAD v2:
5-41862665-T-A
gnomAD v3:
5-41862563-T-A
gnomAD v4:
5-41862563-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.41862563T>A , CM000667.2:g.41862563T>A | GRCh38 |
| NC_000005.9:g.41862665T>A , CM000667.1:g.41862665T>A | GRCh37 |
| NC_000005.8:g.41898422T>A | NCBI36 |
| NG_011823.1:g.13127A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000196371.10:c.187+79A>T MANE Select | ENSP00000196371.5:n.187+79A>T | |
| ENST00000196371.9:c.187+79A>T | ENSP00000196371.5:n.187+79A>T | |
| NM_000436.3:c.187+79A>T | NP_000427.1:n.187+79A>T | |
| XR_427658.2:n.363+79A>T | ||
| NM_001364299.1:c.187+79A>T | NP_001351228.1:n.187+79A>T | |
| NM_001364300.1:c.208+79A>T | NP_001351229.1:n.208+79A>T | |
| NM_001364301.1:c.187+79A>T | NP_001351230.1:n.187+79A>T | |
| NM_001364302.1:c.187+79A>T | NP_001351231.1:n.187+79A>T | |
| NR_157114.1:n.254+79A>T | ||
| XR_001742081.2:n.364+79A>T | ||
| NM_000436.4:c.187+79A>T MANE Select | NP_000427.1:n.187+79A>T | |
| NM_001364299.2:c.187+79A>T | NP_001351228.1:n.187+79A>T | |
| NM_001364300.2:c.208+79A>T | NP_001351229.1:n.208+79A>T | |
| NM_001364301.2:c.187+79A>T | NP_001351230.1:n.187+79A>T | |
| NM_001364302.2:c.187+79A>T | NP_001351231.1:n.187+79A>T | |
| NR_157114.2:n.254+79A>T |