Linked Data
ClinVar Variation Id:
220724
dbSNP Id:
rs117336941
ExAC:
19:40903043 C / T
gnomAD v2:
19-40903043-C-T
gnomAD v3:
19-40397136-C-T
gnomAD v4:
19-40397136-C-T
PubMed:
PMID:11133365
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40397136C>T , CM000681.2:g.40397136C>T | GRCh38 |
| NC_000019.9:g.40903043C>T , CM000681.1:g.40903043C>T | GRCh37 |
| NC_000019.8:g.45594883C>T | NCBI36 |
| NG_007979.1:g.21229G>A , LRG_265:g.21229G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324001.8:c.1216G>A MANE Select | ENSP00000326018.6:p.Ala406Thr | |
| ENST00000673881.1:c.799G>A | ENSP00000501070.1:p.Ala267Thr | |
| ENST00000674005.2:c.1501G>A | ENSP00000501261.1:p.Ala501Thr | |
| ENST00000674773.1:c.799G>A | ENSP00000502579.1:p.Ala267Thr | |
| ENST00000675517.1:c.1091G>A | ||
| ENST00000676076.1:c.1077G>A | ||
| ENST00000676260.1:c.1178G>A | ||
| ENST00000676316.1:c.1103G>A | ||
| ENST00000291825.11:c.*1421G>A | ENSP00000291825.6:n.*1421G>A | |
| ENST00000324001.7:c.1216G>A | ENSP00000326018.6:p.Ala406Thr | |
| NM_020956.2:c.*1421G>A , LRG_265t1:c.*1421G>A | NP_066007.1:n.*1421G>A | |
| NM_181882.2:c.1216G>A , LRG_265t2:c.1216G>A | NP_870998.2:p.Ala406Thr | |
| XM_011527171.1:c.1216G>A | XP_011525473.1:p.Ala406Thr | |
| XM_011527171.2:c.1216G>A | XP_011525473.1:p.Ala406Thr | |
| XM_017027046.1:c.1114G>A | XP_016882535.1:p.Ala372Thr | |
| XM_017027047.1:c.1114G>A | XP_016882536.1:p.Ala372Thr | |
| NM_181882.3:c.1216G>A MANE Select | NP_870998.2:p.Ala406Thr |