Linked Data
ClinVar Variation Id:
918082
ClinVar RCV Id:
RCV001260965
dbSNP Id:
rs1561708913
gnomAD v4:
5-148131268-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148131268A>T , CM000667.2:g.148131268A>T | GRCh38 |
| NC_000005.9:g.147510831A>T , CM000667.1:g.147510831A>T | GRCh37 |
| NC_000005.8:g.147491024A>T | NCBI36 |
| NG_009633.1:g.72297A>T , LRG_110:g.72297A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256084.8:c.2974A>T MANE Select | ENSP00000256084.7:p.Met992Leu | |
| ENST00000256084.7:c.2974A>T | ENSP00000256084.7:p.Met992Leu | |
| ENST00000359874.7:c.3064A>T | ENSP00000352936.3:p.Met1022Leu | |
| NM_001127698.1:c.3064A>T | NP_001121170.1:p.Met1022Leu | |
| NM_006846.3:c.2974A>T , LRG_110t1:c.2974A>T | NP_006837.2:p.Met992Leu | |
| XM_011537550.1:c.3007A>T | XP_011535852.1:p.Met1003Leu | |
| XM_011537551.1:c.2980A>T | XP_011535853.1:p.Met994Leu | |
| XM_011537551.2:c.2980A>T | XP_011535853.1:p.Met994Leu | |
| NM_001127698.2:c.3064A>T | NP_001121170.1:p.Met1022Leu | |
| NM_006846.4:c.2974A>T MANE Select | NP_006837.2:p.Met992Leu |