Linked Data
ClinVar Variation Id:
1242257
dbSNP Id:
rs4523977
ExAC:
17:39883350 G / A
gnomAD v2:
17-39883350-G-A
gnomAD v3:
17-41727098-G-A
gnomAD v4:
17-41727098-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41727098G>A , CM000679.2:g.41727098G>A | GRCh38 |
| NC_000017.10:g.39883350G>A , CM000679.1:g.39883350G>A | GRCh37 |
| NC_000017.9:g.37136876G>A | NCBI36 |
| NG_009090.2:g.64615C>T , LRG_401:g.64615C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000347901.9:c.1322C>T MANE Select | ENSP00000334002.4:p.Thr441Met | |
| ENST00000310778.5:c.1478C>T | ENSP00000309392.5:p.Thr493Met | |
| ENST00000341193.9:c.1271C>T | ENSP00000343170.5:p.Thr424Met | |
| ENST00000347901.8:c.1322C>T | ENSP00000334002.4:p.Thr441Met | |
| ENST00000393939.6:c.1247C>T | ENSP00000377513.2:p.Thr416Met | |
| NM_001079870.1:c.1271C>T | NP_001073339.1:p.Thr424Met | |
| NM_001079871.1:c.1247C>T | NP_001073340.1:p.Thr416Met | |
| NM_177977.2:c.1322C>T | NP_817084.2:p.Thr441Met | |
| NM_001367459.1:c.1418C>T | NP_001354388.1:p.Thr473Met | |
| NM_001367460.1:c.1382C>T | NP_001354389.1:p.Thr461Met | |
| NM_001367461.1:c.1247C>T | NP_001354390.1:p.Thr416Met | |
| NM_001367462.1:c.1247C>T | NP_001354391.1:p.Thr416Met | |
| NM_177977.3:c.1322C>T MANE Select | NP_817084.2:p.Thr441Met |