Linked Data
ClinVar Variation Id:
796448
ClinVar RCV Id:
RCV001402021
dbSNP Id:
rs767127989
MyVariant Identifiers:
chr12:g.103271300C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102877522C>T , CM000674.2:g.102877522C>T | GRCh38 |
| NC_000012.11:g.103271300C>T , CM000674.1:g.103271300C>T | GRCh37 |
| NC_000012.10:g.101795430C>T | NCBI36 |
| NG_008690.1:g.45081G>A | |
| NG_008690.2:g.85889G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.381G>A MANE Select | ENSP00000448059.1:p.Glu127= | |
| ENST00000307000.7:c.366G>A | ENSP00000303500.2:p.Glu122= | |
| ENST00000549111.5:n.477G>A | ||
| ENST00000550978.6:c.365G>A | ||
| ENST00000551337.5:c.381G>A | ENSP00000447620.1:p.Glu127= | |
| ENST00000551988.5:n.470G>A | ||
| ENST00000553106.5:c.381G>A | ENSP00000448059.1:p.Glu127= | |
| NM_000277.1:c.381G>A | NP_000268.1:p.Glu127= | |
| XM_011538422.1:c.381G>A | XP_011536724.1:p.Glu127= | |
| NM_000277.2:c.381G>A | NP_000268.1:p.Glu127= | |
| NM_001354304.1:c.381G>A | NP_001341233.1:p.Glu127= | |
| XM_017019370.2:c.381G>A | XP_016874859.1:p.Glu127= | |
| NM_000277.3:c.381G>A MANE Select | NP_000268.1:p.Glu127= | |
| NM_001354304.2:c.381G>A | NP_001341233.1:p.Glu127= |