Linked Data
ClinVar Variation Id:
36202
ClinVar RCV Id:
RCV000029865
RCV000711768
RCV001162070
RCV001162072
RCV001162069
RCV002463596
RCV002496452
RCV001162071
RCV003325947
dbSNP Id:
rs193922285
ExAC:
7:44184747 C / A
gnomAD v2:
7-44184747-C-A
gnomAD v3:
7-44145148-C-A
gnomAD v4:
7-44145148-C-A
ERepo:
CA213763/MONDO:0015967/086
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44145148C>A , CM000669.2:g.44145148C>A | GRCh38 |
| NC_000007.13:g.44184747C>A , CM000669.1:g.44184747C>A | GRCh37 |
| NC_000007.12:g.44151272C>A | NCBI36 |
| NG_008847.1:g.49276G>T | |
| NG_008847.2:g.58023G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395796.8:c.*1384G>T | ENSP00000379142.4:n.*1384G>T | |
| ENST00000616242.5:c.*506G>T | ENSP00000482149.2:n.*506G>T | |
| ENST00000683378.1:n.612G>T | ||
| ENST00000336642.9:c.420G>T | ENSP00000338009.5:p.Met140Ile | |
| ENST00000345378.7:c.1389G>T | ENSP00000223366.2:p.Met463Ile | |
| ENST00000403799.8:c.1386G>T MANE Select | ENSP00000384247.3:p.Met462Ile | |
| ENST00000671824.1:c.1449G>T | ENSP00000500264.1:p.Met483Ile | |
| ENST00000672743.1:n.381+17G>T | ||
| ENST00000673284.1:c.1369+17G>T | ENSP00000499852.1:n.1369+17G>T | |
| ENST00000336642.8:c.438G>T | ENSP00000338009.4:p.Met146Ile | |
| ENST00000345378.6:c.1389G>T | ENSP00000223366.2:p.Met463Ile | |
| ENST00000395796.7:c.1383G>T | ENSP00000379142.3:p.Met461Ile | |
| ENST00000403799.7:c.1386G>T | ENSP00000384247.3:p.Met462Ile | |
| ENST00000437084.1:c.1335G>T | ENSP00000402840.1:p.Met445Ile | |
| ENST00000459642.1:n.766G>T | ||
| ENST00000616242.4:c.1383G>T | ENSP00000482149.1:p.Met461Ile | |
| NM_000162.3:c.1386G>T | NP_000153.1:p.Met462Ile | |
| NM_033507.1:c.1389G>T | NP_277042.1:p.Met463Ile | |
| NM_033508.1:c.1383G>T | NP_277043.1:p.Met461Ile | |
| NM_000162.4:c.1386G>T | NP_000153.1:p.Met462Ile | |
| NM_001354800.1:c.1369+17G>T | NP_001341729.1:n.1369+17G>T | |
| NM_001354801.1:c.375G>T | NP_001341730.1:p.Met125Ile | |
| NM_001354802.1:c.229+17G>T | NP_001341731.1:n.229+17G>T | |
| NM_001354803.1:c.420G>T | NP_001341732.1:p.Met140Ile | |
| NM_033507.2:c.1389G>T | NP_277042.1:p.Met463Ile | |
| NM_033508.2:c.1383G>T | NP_277043.1:p.Met461Ile | |
| XM_024446707.1:c.246G>T | XP_024302475.1:p.Met82Ile | |
| NM_000162.5:c.1386G>T MANE Select | NP_000153.1:p.Met462Ile | |
| NM_033507.3:c.1389G>T | NP_277042.1:p.Met463Ile | |
| NM_033508.3:c.1383G>T | NP_277043.1:p.Met461Ile | |
| NM_001354803.2:c.420G>T | NP_001341732.1:p.Met140Ile |