Linked Data
ClinVar Variation Id:
137849
dbSNP Id:
rs112023543
ExAC:
12:49579639 A / G
gnomAD v2:
12-49579639-A-G
gnomAD v3:
12-49185856-A-G
gnomAD v4:
12-49185856-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49185856A>G , CM000674.2:g.49185856A>G | GRCh38 |
| NC_000012.11:g.49579639A>G , CM000674.1:g.49579639A>G | GRCh37 |
| NC_000012.10:g.47865906A>G | NCBI36 |
| NG_008966.1:g.8223T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301071.12:c.510T>C MANE Select | ENSP00000301071.7:p.Ser170= | |
| ENST00000547939.6:c.405T>C | ENSP00000450268.2:p.Ser135= | |
| ENST00000550767.6:c.405T>C | ENSP00000446637.1:p.Ser135= | |
| ENST00000550811.2:n.1543T>C | ||
| ENST00000552924.2:c.405T>C | ENSP00000448725.2:p.Ser135= | |
| ENST00000679733.1:c.533T>C | ENSP00000505459.1:p.Leu178Pro | |
| ENST00000295766.9:c.510T>C | ENSP00000439020.2:p.Ser170= | |
| ENST00000301071.11:c.510T>C | ENSP00000301071.7:p.Ser170= | |
| ENST00000546918.1:c.662T>C | ENSP00000446613.1:p.Leu221Pro | |
| ENST00000547939.5:c.405T>C | ENSP00000450268.1:p.Ser135= | |
| ENST00000550767.5:c.405T>C | ENSP00000446637.1:p.Ser135= | |
| NM_001270399.1:c.510T>C | NP_001257328.1:p.Ser170= | |
| NM_001270400.1:c.405T>C | NP_001257329.1:p.Ser135= | |
| NM_006009.3:c.510T>C | NP_006000.2:p.Ser170= | |
| NM_006009.4:c.510T>C MANE Select | NP_006000.2:p.Ser170= | |
| NM_001270399.2:c.510T>C | NP_001257328.1:p.Ser170= | |
| NM_001270400.2:c.405T>C | NP_001257329.1:p.Ser135= |