Linked Data
dbSNP Id:
rs318039
ExAC:
5:41475766 C / T
gnomAD v2:
5-41475766-C-T
gnomAD v3:
5-41475664-C-T
gnomAD v4:
5-41475664-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.41475664C>T , CM000667.2:g.41475664C>T | GRCh38 |
| NC_000005.9:g.41475766C>T , CM000667.1:g.41475766C>T | GRCh37 |
| NC_000005.8:g.41511523C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000377801.8:c.103+34760G>A MANE Select | ENSP00000367032.3:n.103+34760G>A | |
| ENST00000328457.5:c.103+34760G>A | ENSP00000333751.3:n.103+34760G>A | |
| ENST00000377801.7:c.103+34760G>A | ENSP00000367032.3:n.103+34760G>A | |
| NM_001005473.2:c.103+34760G>A | NP_001005473.1:n.103+34760G>A | |
| NM_001005473.3:c.103+34760G>A MANE Select | NP_001005473.1:n.103+34760G>A |