Linked Data
ClinVar Variation Id:
4703
ClinVar RCV Id:
RCV000004968
dbSNP Id:
rs119479061
PubMed:
PMID:18157127
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46346146G>T , CM000683.2:g.46346146G>T | GRCh38 |
| NC_000021.8:g.47766060G>T , CM000683.1:g.47766060G>T | GRCh37 |
| NC_000021.7:g.46590488G>T | NCBI36 |
| NG_008961.1:g.27025G>T | |
| NG_008961.2:g.27025G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000466474.6:c.658G>T | ENSP00000511987.1:p.Glu220Ter | |
| ENST00000695525.1:n.744G>T | ||
| ENST00000695526.1:c.583G>T | ENSP00000511988.1:p.Glu195Ter | |
| ENST00000695558.1:c.658G>T | ENSP00000512015.1:p.Glu220Ter | |
| ENST00000703224.1:c.831G>T | ENSP00000515242.1:p.Val277= | |
| ENST00000703225.1:n.2093G>T | ||
| ENST00000359568.10:c.658G>T MANE Select | ENSP00000352572.5:p.Glu220Ter | |
| ENST00000359568.9:c.658G>T | ENSP00000352572.5:p.Glu220Ter | |
| ENST00000466474.5:n.9G>T | ||
| ENST00000480896.5:n.927G>T | ||
| ENST00000490468.5:n.746G>T | ||
| NM_001315529.1:c.304G>T | NP_001302458.1:p.Glu102Ter | |
| NM_006031.5:c.658G>T | NP_006022.3:p.Glu220Ter | |
| XM_005261124.3:c.658G>T | XP_005261181.1:p.Glu220Ter | |
| XM_011529593.1:c.739G>T | XP_011527895.1:p.Glu247Ter | |
| XM_011529594.1:c.739G>T | XP_011527896.1:p.Glu247Ter | |
| XM_005261124.5:c.658G>T | XP_005261181.1:p.Glu220Ter | |
| XM_011529594.3:c.739G>T | XP_011527896.1:p.Glu247Ter | |
| XM_017028362.2:c.658G>T | XP_016883851.1:p.Glu220Ter | |
| XM_017028363.1:c.304G>T | XP_016883852.1:p.Glu102Ter | |
| XM_024452083.1:c.-1451G>T | XP_024307851.1:n.-1451G>T | |
| NM_006031.6:c.658G>T MANE Select | NP_006022.3:p.Glu220Ter | |
| NM_001315529.2:c.304G>T | NP_001302458.1:p.Glu102Ter |