Linked Data
ClinVar Variation Id:
2602
ClinVar RCV Id:
RCV000002720
dbSNP Id:
rs137852904
gnomAD v4:
4-80036011-C-A
PubMed:
PMID:12973667
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.80036011C>A , CM000666.2:g.80036011C>A | GRCh38 |
| NC_000004.11:g.80957165C>A , CM000666.1:g.80957165C>A | GRCh37 |
| NC_000004.10:g.81176189C>A | NCBI36 |
| NG_015987.1:g.42313G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403729.7:c.658G>T MANE Select | ENSP00000385575.2:p.Glu220Ter | |
| ENST00000679571.1:c.427G>T | ENSP00000506307.1:p.Glu143Ter | |
| ENST00000680913.1:c.658G>T | ENSP00000505640.1:p.Glu220Ter | |
| ENST00000681115.1:c.658G>T | ENSP00000505618.1:p.Glu220Ter | |
| ENST00000681710.1:c.427G>T | ENSP00000505865.1:p.Glu143Ter | |
| ENST00000307333.7:c.658G>T | ENSP00000306185.6:p.Glu220Ter | |
| ENST00000346652.10:c.636+18261G>T | ENSP00000314883.6:n.636+18261G>T | |
| ENST00000403729.6:c.658G>T | ENSP00000385575.2:p.Glu220Ter | |
| ENST00000404191.5:c.427G>T | ENSP00000384028.1:p.Glu143Ter | |
| ENST00000449651.5:c.427G>T | ENSP00000413700.1:p.Glu143Ter | |
| NM_001145794.1:c.658G>T | NP_001139266.1:p.Glu220Ter | |
| NM_001286780.1:c.427G>T | NP_001273709.1:p.Glu143Ter | |
| NM_001286781.1:c.427G>T | NP_001273710.1:p.Glu143Ter | |
| NM_058172.5:c.658G>T | NP_477520.2:p.Glu220Ter | |
| XM_011531587.1:c.427G>T | XP_011529889.1:p.Glu143Ter | |
| XM_011531587.3:c.427G>T | XP_011529889.1:p.Glu143Ter | |
| NM_058172.6:c.658G>T MANE Select | NP_477520.2:p.Glu220Ter | |
| NM_001286780.2:c.427G>T | NP_001273709.1:p.Glu143Ter | |
| NM_001286781.2:c.427G>T | NP_001273710.1:p.Glu143Ter | |
| NM_001145794.2:c.658G>T | NP_001139266.1:p.Glu220Ter |