Linked Data
dbSNP Id:
rs1871855222
gnomAD v4:
13-33054015-G-A
MyVariant Identifiers:
chr13:g.33628152G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.33054015G>A , CM000675.2:g.33054015G>A | GRCh38 |
| NC_000013.10:g.33628152G>A , CM000675.1:g.33628152G>A | GRCh37 |
| NC_000013.9:g.32526152G>A | NCBI36 |
| NG_011485.1:g.42582G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000380099.4:c.1068G>A MANE Select | ENSP00000369442.3:p.Glu356= | |
| ENST00000380099.3:c.1068G>A | ENSP00000369442.3:p.Glu356= | |
| ENST00000487852.1:n.1076G>A | ||
| NM_004795.3:c.1068G>A | NP_004786.2:p.Glu356= | |
| XM_006719895.1:c.147G>A | XP_006719958.1:p.Glu49= | |
| XM_006719895.2:c.147G>A | XP_006719958.1:p.Glu49= | |
| NM_004795.4:c.1068G>A MANE Select | NP_004786.2:p.Glu356= |