Linked Data
ClinVar Variation Id:
2721764
ClinVar RCV Id:
RCV003595328
dbSNP Id:
rs373709427
ExAC:
9:137734145 G / A
gnomAD v2:
9-137734145-G-A
gnomAD v3:
9-134842299-G-A
gnomAD v4:
9-134842299-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134842299G>A , CM000671.2:g.134842299G>A | GRCh38 |
| NC_000009.11:g.137734145G>A , CM000671.1:g.137734145G>A | GRCh37 |
| NC_000009.10:g.136873966G>A | NCBI36 |
| NG_008030.1:g.205494G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371820.4:c.5513G>A | ENSP00000360885.4:p.Gly1838Asp | |
| ENST00000371817.8:c.5513G>A MANE Select | ENSP00000360882.3:p.Gly1838Asp | |
| ENST00000371817.7:c.5513G>A | ENSP00000360882.3:p.Gly1838Asp | |
| ENST00000618395.4:c.5513G>A | ENSP00000481360.1:p.Gly1838Asp | |
| NM_000093.4:c.5513G>A | NP_000084.3:p.Gly1838Asp | |
| NM_001278074.1:c.5513G>A | NP_001265003.1:p.Gly1838Asp | |
| NR_103451.2:n.71-22090C>T | ||
| NM_000093.5:c.5513G>A MANE Select | NP_000084.3:p.Gly1838Asp |