Linked Data
ClinVar Variation Id:
1214221
dbSNP Id:
rs200832611
ExAC:
10:50701164 T / A
gnomAD v2:
10-50701164-T-A
gnomAD v3:
10-49493118-T-A
gnomAD v4:
10-49493118-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49493118T>A , CM000672.2:g.49493118T>A | GRCh38 |
| NC_000010.10:g.50701164T>A , CM000672.1:g.50701164T>A | GRCh37 |
| NC_000010.9:g.50371170T>A | NCBI36 |
| NG_009442.1:g.50984A>T , LRG_465:g.50984A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355832.10:c.1820A>T MANE Select | ENSP00000348089.5:p.Lys607Met | |
| ENST00000681632.1:n.1898A>T | ||
| ENST00000681659.1:c.1661A>T | ENSP00000505631.1:p.Lys554Met | |
| ENST00000355832.9:c.1820A>T | ENSP00000348089.5:p.Lys607Met | |
| ENST00000475116.1:n.275+7420A>T | ||
| ENST00000623073.3:c.221A>T | ENSP00000485650.1:p.Lys74Met | |
| ENST00000623115.3:c.-70+7420A>T | ENSP00000485321.1:n.-70+7420A>T | |
| ENST00000623318.1:c.221A>T | ENSP00000485423.1:p.Lys74Met | |
| NM_000124.3:c.1820A>T | NP_000115.1:p.Lys607Met | |
| NM_001346440.1:c.1820A>T | NP_001333369.1:p.Lys607Met | |
| NM_000124.4:c.1820A>T MANE Select | NP_000115.1:p.Lys607Met | |
| NM_001346440.2:c.1820A>T | NP_001333369.1:p.Lys607Met |