Linked Data
ClinVar Variation Id:
46129
dbSNP Id:
rs2839500
ExAC:
21:43803167 T / C
gnomAD v2:
21-43803167-T-C
gnomAD v3:
21-42383058-T-C
gnomAD v4:
21-42383058-T-C
PubMed:
PMID:12920079
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.42383058T>C , CM000683.2:g.42383058T>C | GRCh38 |
| NC_000021.8:g.43803167T>C , CM000683.1:g.43803167T>C | GRCh37 |
| NC_000021.7:g.42676236T>C | NCBI36 |
| NG_011629.1:g.18034A>G | |
| NG_011629.2:g.18034A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433957.7:c.757A>G | ENSP00000411013.3:p.Ile253Val | |
| ENST00000644384.2:c.757A>G MANE Select | ENSP00000494414.1:p.Ile253Val | |
| ENST00000652415.1:c.757A>G | ENSP00000498756.1:p.Ile253Val | |
| ENST00000291532.7:c.757A>G | ENSP00000291532.3:p.Ile253Val | |
| ENST00000398397.3:c.757A>G | ENSP00000381434.3:p.Ile253Val | |
| ENST00000398405.5:c.751A>G | ENSP00000381442.1:p.Ile251Val | |
| ENST00000433957.6:c.757A>G | ENSP00000411013.2:p.Ile253Val | |
| ENST00000474596.5:n.625A>G | ||
| ENST00000476848.5:n.694A>G | ||
| ENST00000482761.1:n.1044A>G | ||
| NM_001256317.1:c.757A>G | NP_001243246.1:p.Ile253Val | |
| NM_024022.2:c.757A>G | NP_076927.1:p.Ile253Val | |
| NM_032404.2:c.376A>G | NP_115780.1:p.Ile126Val | |
| NM_032405.1:c.757A>G | NP_115781.1:p.Ile253Val | |
| NR_046020.1:n.1713A>G | ||
| NM_001256317.2:c.757A>G | NP_001243246.1:p.Ile253Val | |
| NM_024022.3:c.757A>G | NP_076927.1:p.Ile253Val | |
| NM_032405.2:c.757A>G | NP_115781.1:p.Ile253Val | |
| NM_001256317.3:c.757A>G MANE Select | NP_001243246.1:p.Ile253Val | |
| NM_024022.4:c.757A>G | NP_076927.1:p.Ile253Val | |
| NM_032404.3:c.376A>G | NP_115780.1:p.Ile126Val |