Linked Data
ClinVar Variation Id:
134646
dbSNP Id:
rs375353223
ExAC:
7:116339241 A / T
gnomAD v2:
7-116339241-A-T
gnomAD v3:
7-116699187-A-T
gnomAD v4:
7-116699187-A-T
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.116699187A>T , CM000669.2:g.116699187A>T | GRCh38 |
| NC_000007.13:g.116339241A>T , CM000669.1:g.116339241A>T | GRCh37 |
| NC_000007.12:g.116126477A>T | NCBI36 |
| NG_008996.1:g.31783A>T , LRG_662:g.31783A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000422097.2:c.103A>T | ENSP00000398776.2:p.Met35Leu | |
| ENST00000436117.3:c.103A>T | ENSP00000410980.2:p.Met35Leu | |
| ENST00000318493.11:c.103A>T | ENSP00000317272.6:p.Met35Leu | |
| ENST00000397752.8:c.103A>T MANE Select | ENSP00000380860.3:p.Met35Leu | |
| ENST00000318493.10:c.103A>T | ENSP00000317272.6:p.Met35Leu | |
| ENST00000397752.7:c.103A>T | ENSP00000380860.3:p.Met35Leu | |
| ENST00000436117.2:c.103A>T | ENSP00000410980.2:p.Met35Leu | |
| ENST00000456159.1:c.160A>T | ENSP00000413857.1:p.Met54Leu | |
| NM_000245.2:c.103A>T | NP_000236.2:p.Met35Leu | |
| NM_001127500.1:c.103A>T , LRG_662t1:c.103A>T | NP_001120972.1:p.Met35Leu | |
| XM_006715991.2:c.-91+26610A>T | XP_006716054.1:n.-91+26610A>T | |
| XM_011516223.1:c.160A>T | XP_011514525.1:p.Met54Leu | |
| NM_000245.3:c.103A>T | NP_000236.2:p.Met35Leu | |
| NM_001127500.2:c.103A>T | NP_001120972.1:p.Met35Leu | |
| NM_001324401.1:c.103A>T | NP_001311330.1:p.Met35Leu | |
| NM_001324402.1:c.-91+26610A>T | NP_001311331.1:n.-91+26610A>T | |
| XR_001744772.1:n.334A>T | ||
| NM_001127500.3:c.103A>T | NP_001120972.1:p.Met35Leu | |
| NM_000245.4:c.103A>T MANE Select | NP_000236.2:p.Met35Leu | |
| NM_001324401.2:c.103A>T | NP_001311330.1:p.Met35Leu | |
| NM_001324402.2:c.-91+26610A>T | NP_001311331.1:n.-91+26610A>T | |
| NM_001324401.3:c.103A>T | NP_001311330.1:p.Met35Leu |