Linked Data
ClinVar Variation Id:
331187
dbSNP Id:
rs886054865
gnomAD v2:
2-136566527-C-T
gnomAD v4:
2-135808957-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135808957C>T , CM000664.2:g.135808957C>T | GRCh38 |
| NC_000002.11:g.136566527C>T , CM000664.1:g.136566527C>T | GRCh37 |
| NC_000002.10:g.136282997C>T | NCBI36 |
| NG_008104.2:g.51213G>A , LRG_338:g.51213G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264162.7:c.3390G>A MANE Select | ENSP00000264162.2:p.Glu1130= | |
| ENST00000264162.6:c.3390G>A | ENSP00000264162.2:p.Glu1130= | |
| ENST00000452974.1:c.1686G>A | ENSP00000391231.1:p.Glu562= | |
| NM_002299.2:c.3390G>A , LRG_338t1:c.3390G>A | NP_002290.2:p.Glu1130= | |
| NM_002299.3:c.3390G>A | NP_002290.2:p.Glu1130= | |
| XM_017004088.2:c.3390G>A | XP_016859577.1:p.Glu1130= | |
| NM_002299.4:c.3390G>A MANE Select | NP_002290.2:p.Glu1130= |