Linked Data
ClinVar Variation Id:
46107
dbSNP Id:
rs45598239
ExAC:
21:43809092 C / T
gnomAD v2:
21-43809092-C-T
gnomAD v3:
21-42388983-C-T
gnomAD v4:
21-42388983-C-T
PubMed:
PMID:16283880
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.42388983C>T , CM000683.2:g.42388983C>T | GRCh38 |
| NC_000021.8:g.43809092C>T , CM000683.1:g.43809092C>T | GRCh37 |
| NC_000021.7:g.42682161C>T | NCBI36 |
| NG_011629.1:g.12109G>A | |
| NG_011629.2:g.12109G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000433957.7:c.268G>A | ENSP00000411013.3:p.Ala90Thr | |
| ENST00000644384.2:c.268G>A MANE Select | ENSP00000494414.1:p.Ala90Thr | |
| ENST00000652415.1:c.268G>A | ENSP00000498756.1:p.Ala90Thr | |
| ENST00000291532.7:c.268G>A | ENSP00000291532.3:p.Ala90Thr | |
| ENST00000398397.3:c.268G>A | ENSP00000381434.3:p.Ala90Thr | |
| ENST00000398405.5:c.262G>A | ENSP00000381442.1:p.Ala88Thr | |
| ENST00000433957.6:c.268G>A | ENSP00000411013.2:p.Ala90Thr | |
| ENST00000474596.5:n.136G>A | ||
| ENST00000482761.1:n.555G>A | ||
| NM_001256317.1:c.268G>A | NP_001243246.1:p.Ala90Thr | |
| NM_024022.2:c.268G>A | NP_076927.1:p.Ala90Thr | |
| NM_032404.2:c.-114G>A | NP_115780.1:n.-114G>A | |
| NM_032405.1:c.268G>A | NP_115781.1:p.Ala90Thr | |
| NR_046020.1:n.1224G>A | ||
| NM_001256317.2:c.268G>A | NP_001243246.1:p.Ala90Thr | |
| NM_024022.3:c.268G>A | NP_076927.1:p.Ala90Thr | |
| NM_032405.2:c.268G>A | NP_115781.1:p.Ala90Thr | |
| NM_001256317.3:c.268G>A MANE Select | NP_001243246.1:p.Ala90Thr | |
| NM_024022.4:c.268G>A | NP_076927.1:p.Ala90Thr | |
| NM_032404.3:c.-114G>A | NP_115780.1:n.-114G>A |