Linked Data
ClinVar Variation Id:
137002
dbSNP Id:
rs111541535
ExAC:
17:14110294 G / T
gnomAD v2:
17-14110294-G-T
gnomAD v3:
17-14206977-G-T
gnomAD v4:
17-14206977-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.14206977G>T , CM000679.2:g.14206977G>T | GRCh38 |
| NC_000017.10:g.14110294G>T , CM000679.1:g.14110294G>T | GRCh37 |
| NC_000017.9:g.14051019G>T | NCBI36 |
| NG_008034.1:g.142576G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261643.8:c.1096G>T MANE Select | ENSP00000261643.3:p.Val366Leu | |
| ENST00000664217.1:c.1096G>T | ENSP00000499396.1:p.Val366Leu | |
| ENST00000670279.1:c.929-2532G>T | ENSP00000499450.1:n.929-2532G>T | |
| ENST00000261643.7:c.1096G>T | ENSP00000261643.3:p.Val366Leu | |
| ENST00000580561.1:c.*585G>T | ENSP00000462190.1:n.*585G>T | |
| ENST00000581931.5:c.*464G>T | ENSP00000462512.1:n.*464G>T | |
| NM_001303.3:c.1096G>T | NP_001294.2:p.Val366Leu | |
| XM_011523658.1:c.520G>T | XP_011521960.1:p.Val174Leu | |
| XR_933974.1:n.1032-2532G>T | ||
| NM_001303.4:c.1096G>T MANE Select | NP_001294.2:p.Val366Leu |