Linked Data
ClinVar Variation Id:
1402572
ClinVar RCV Id:
RCV001896984
dbSNP Id:
rs753466976
ExAC:
12:103306674 T / G
gnomAD v2:
12-103306674-T-G
gnomAD v3:
12-102912896-T-G
gnomAD v4:
12-102912896-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102912896T>G , CM000674.2:g.102912896T>G | GRCh38 |
| NC_000012.11:g.103306674T>G , CM000674.1:g.103306674T>G | GRCh37 |
| NC_000012.10:g.101830804T>G | NCBI36 |
| NG_008690.1:g.9707A>C | |
| NG_008690.2:g.50515A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.63A>C MANE Select | ENSP00000448059.1:p.Glu21Asp | |
| ENST00000307000.7:c.48A>C | ENSP00000303500.2:p.Glu16Asp | |
| ENST00000546844.1:c.63A>C | ENSP00000446658.1:p.Glu21Asp | |
| ENST00000548677.2:n.150A>C | ||
| ENST00000549111.5:n.159A>C | ||
| ENST00000550978.6:c.47A>C | ||
| ENST00000551337.5:c.63A>C | ENSP00000447620.1:p.Glu21Asp | |
| ENST00000551988.5:n.152A>C | ||
| ENST00000553106.5:c.63A>C | ENSP00000448059.1:p.Glu21Asp | |
| ENST00000635500.1:n.31A>C | ||
| NM_000277.1:c.63A>C | NP_000268.1:p.Glu21Asp | |
| XM_011538422.1:c.63A>C | XP_011536724.1:p.Glu21Asp | |
| NM_000277.2:c.63A>C | NP_000268.1:p.Glu21Asp | |
| NM_001354304.1:c.63A>C | NP_001341233.1:p.Glu21Asp | |
| XM_017019370.2:c.63A>C | XP_016874859.1:p.Glu21Asp | |
| NM_000277.3:c.63A>C MANE Select | NP_000268.1:p.Glu21Asp | |
| NM_001354304.2:c.63A>C | NP_001341233.1:p.Glu21Asp |