Linked Data
ClinVar Variation Id:
6042
ClinVar RCV Id:
RCV000006414
dbSNP Id:
rs267606734
gnomAD v4:
10-72008145-G-A
PubMed:
PMID:18513679
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.72008145G>A , CM000672.2:g.72008145G>A | GRCh38 |
| NC_000010.10:g.73767903G>A , CM000672.1:g.73767903G>A | GRCh37 |
| NC_000010.9:g.73437909G>A | NCBI36 |
| NG_012635.1:g.48784G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373115.5:c.1114G>A MANE Select | ENSP00000362207.4:p.Glu372Lys | |
| ENST00000373115.4:c.1114G>A | ENSP00000362207.4:p.Glu372Lys | |
| NM_004273.4:c.1114G>A | NP_004264.2:p.Glu372Lys | |
| XM_006718075.2:c.1114G>A | XP_006718138.1:p.Glu372Lys | |
| XM_011540369.1:c.1114G>A | XP_011538671.1:p.Glu372Lys | |
| XM_006718075.4:c.1114G>A | XP_006718138.1:p.Glu372Lys | |
| XM_011540369.2:c.1114G>A | XP_011538671.1:p.Glu372Lys | |
| NM_004273.5:c.1114G>A MANE Select | NP_004264.2:p.Glu372Lys |