Linked Data
dbSNP Id:
rs879012174
gnomAD v3:
12-102877519-C-G
gnomAD v4:
12-102877519-C-G
MyVariant Identifiers:
chr12:g.103271297C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102877519C>G , CM000674.2:g.102877519C>G | GRCh38 |
| NC_000012.11:g.103271297C>G , CM000674.1:g.103271297C>G | GRCh37 |
| NC_000012.10:g.101795427C>G | NCBI36 |
| NG_008690.1:g.45084G>C | |
| NG_008690.2:g.85892G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.384G>C MANE Select | ENSP00000448059.1:p.Leu128= | |
| ENST00000307000.7:c.369G>C | ENSP00000303500.2:p.Leu123= | |
| ENST00000549111.5:n.480G>C | ||
| ENST00000550978.6:c.368G>C | ||
| ENST00000551337.5:c.384G>C | ENSP00000447620.1:p.Leu128= | |
| ENST00000551988.5:n.473G>C | ||
| ENST00000553106.5:c.384G>C | ENSP00000448059.1:p.Leu128= | |
| NM_000277.1:c.384G>C | NP_000268.1:p.Leu128= | |
| XM_011538422.1:c.384G>C | XP_011536724.1:p.Leu128= | |
| NM_000277.2:c.384G>C | NP_000268.1:p.Leu128= | |
| NM_001354304.1:c.384G>C | NP_001341233.1:p.Leu128= | |
| XM_017019370.2:c.384G>C | XP_016874859.1:p.Leu128= | |
| NM_000277.3:c.384G>C MANE Select | NP_000268.1:p.Leu128= | |
| NM_001354304.2:c.384G>C | NP_001341233.1:p.Leu128= |