Linked Data
ClinVar Variation Id:
16145
dbSNP Id:
rs104894016
gnomAD v2:
7-44185217-C-T
gnomAD v4:
7-44145618-C-T
PubMed:
PMID:16965331
ERepo:
CA126216/MONDO:0015967/086
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44145618C>T , CM000669.2:g.44145618C>T | GRCh38 |
| NC_000007.13:g.44185217C>T , CM000669.1:g.44185217C>T | GRCh37 |
| NC_000007.12:g.44151742C>T | NCBI36 |
| NG_008847.1:g.48806G>A | |
| NG_008847.2:g.57553G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395796.8:c.*1130G>A | ENSP00000379142.4:n.*1130G>A | |
| ENST00000616242.5:c.*252G>A | ENSP00000482149.2:n.*252G>A | |
| ENST00000683378.1:n.358G>A | ||
| ENST00000336642.9:c.166G>A | ENSP00000338009.5:p.Ala56Thr | |
| ENST00000345378.7:c.1135G>A | ENSP00000223366.2:p.Ala379Thr | |
| ENST00000403799.8:c.1132G>A MANE Select | ENSP00000384247.3:p.Ala378Thr | |
| ENST00000671824.1:c.1195G>A | ENSP00000500264.1:p.Ala399Thr | |
| ENST00000672743.1:n.144G>A | ||
| ENST00000673284.1:c.1132G>A | ENSP00000499852.1:p.Ala378Thr | |
| ENST00000336642.8:c.184G>A | ENSP00000338009.4:p.Ala62Thr | |
| ENST00000345378.6:c.1135G>A | ENSP00000223366.2:p.Ala379Thr | |
| ENST00000395796.7:c.1129G>A | ENSP00000379142.3:p.Ala377Thr | |
| ENST00000403799.7:c.1132G>A | ENSP00000384247.3:p.Ala378Thr | |
| ENST00000437084.1:c.1081G>A | ENSP00000402840.1:p.Ala361Thr | |
| ENST00000459642.1:n.512G>A | ||
| ENST00000616242.4:c.1129G>A | ENSP00000482149.1:p.Ala377Thr | |
| NM_000162.3:c.1132G>A | NP_000153.1:p.Ala378Thr | |
| NM_033507.1:c.1135G>A | NP_277042.1:p.Ala379Thr | |
| NM_033508.1:c.1129G>A | NP_277043.1:p.Ala377Thr | |
| NM_000162.4:c.1132G>A | NP_000153.1:p.Ala378Thr | |
| NM_001354800.1:c.1132G>A | NP_001341729.1:p.Ala378Thr | |
| NM_001354801.1:c.121G>A | NP_001341730.1:p.Ala41Thr | |
| NM_001354802.1:c.-9G>A | NP_001341731.1:n.-9G>A | |
| NM_001354803.1:c.166G>A | NP_001341732.1:p.Ala56Thr | |
| NM_033507.2:c.1135G>A | NP_277042.1:p.Ala379Thr | |
| NM_033508.2:c.1129G>A | NP_277043.1:p.Ala377Thr | |
| XM_024446707.1:c.-9G>A | XP_024302475.1:n.-9G>A | |
| NM_000162.5:c.1132G>A MANE Select | NP_000153.1:p.Ala378Thr | |
| NM_033507.3:c.1135G>A | NP_277042.1:p.Ala379Thr | |
| NM_033508.3:c.1129G>A | NP_277043.1:p.Ala377Thr | |
| NM_001354803.2:c.166G>A | NP_001341732.1:p.Ala56Thr |