Linked Data
ClinVar Variation Id:
160141
dbSNP Id:
rs11829764
ExAC:
12:49579141 C / T
gnomAD v2:
12-49579141-C-T
gnomAD v3:
12-49185358-C-T
gnomAD v4:
12-49185358-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49185358C>T , CM000674.2:g.49185358C>T | GRCh38 |
| NC_000012.11:g.49579141C>T , CM000674.1:g.49579141C>T | GRCh37 |
| NC_000012.10:g.47865408C>T | NCBI36 |
| NG_008966.1:g.8721G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301071.12:c.1008G>A MANE Select | ENSP00000301071.7:p.Lys336= | |
| ENST00000547939.6:c.903G>A | ENSP00000450268.2:p.Lys301= | |
| ENST00000550767.6:c.903G>A | ENSP00000446637.1:p.Lys301= | |
| ENST00000550811.2:n.2041G>A | ||
| ENST00000552924.2:c.903G>A | ENSP00000448725.2:p.Lys301= | |
| ENST00000679733.1:c.*464G>A | ENSP00000505459.1:n.*464G>A | |
| ENST00000295766.9:c.1008G>A | ENSP00000439020.2:p.Lys336= | |
| ENST00000301071.11:c.1008G>A | ENSP00000301071.7:p.Lys336= | |
| ENST00000550767.5:c.903G>A | ENSP00000446637.1:p.Lys301= | |
| NM_001270399.1:c.1008G>A | NP_001257328.1:p.Lys336= | |
| NM_001270400.1:c.903G>A | NP_001257329.1:p.Lys301= | |
| NM_006009.3:c.1008G>A | NP_006000.2:p.Lys336= | |
| NM_006009.4:c.1008G>A MANE Select | NP_006000.2:p.Lys336= | |
| NM_001270399.2:c.1008G>A | NP_001257328.1:p.Lys336= | |
| NM_001270400.2:c.903G>A | NP_001257329.1:p.Lys301= |