Linked Data
dbSNP Id:
rs762028919
ExAC:
2:27598013 A / T
gnomAD v2:
2-27598013-A-T
gnomAD v4:
2-27375146-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27375146A>T , CM000664.2:g.27375146A>T | GRCh38 |
| NC_000002.11:g.27598013A>T , CM000664.1:g.27598013A>T | GRCh37 |
| NC_000002.10:g.27451517A>T | NCBI36 |
| NG_009305.1:g.312T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233575.7:c.767A>T MANE Select | ENSP00000233575.2:p.Lys256Met | |
| ENST00000233575.6:c.767A>T | ENSP00000233575.2:p.Lys256Met | |
| ENST00000427123.5:c.*577A>T | ENSP00000405399.1:n.*577A>T | |
| ENST00000440760.5:c.*612A>T | ENSP00000399727.1:n.*612A>T | |
| ENST00000453453.1:c.*294A>T | ENSP00000401922.1:n.*294A>T | |
| ENST00000493711.1:n.484A>T | ||
| ENST00000494893.5:n.943A>T | ||
| ENST00000537606.5:c.692A>T | ENSP00000439208.1:p.Lys231Met | |
| NM_001267059.1:c.731A>T | NP_001253988.1:p.Lys244Met | |
| NM_001267060.1:c.692A>T | NP_001253989.1:p.Lys231Met | |
| NM_001267061.1:c.707A>T | NP_001253990.1:p.Lys236Met | |
| NM_014748.3:c.767A>T | NP_055563.1:p.Lys256Met | |
| NR_049782.1:n.1140A>T | ||
| NR_049783.1:n.1113A>T | ||
| NR_049784.1:n.1089A>T | ||
| NR_049785.1:n.1022A>T | ||
| NR_049786.1:n.971A>T | ||
| NR_049787.1:n.822A>T | ||
| NR_049788.1:n.752A>T | ||
| XM_011533203.1:c.125A>T | XP_011531505.1:p.Lys42Met | |
| XM_011533203.2:c.125A>T | XP_011531505.1:p.Lys42Met | |
| XM_017005405.2:c.125A>T | XP_016860894.1:p.Lys42Met | |
| NM_014748.4:c.767A>T MANE Select | NP_055563.1:p.Lys256Met | |
| NM_001267059.2:c.731A>T | NP_001253988.1:p.Lys244Met | |
| NM_001267061.2:c.707A>T | NP_001253990.1:p.Lys236Met | |
| NR_049782.2:n.1020A>T | ||
| NR_049783.2:n.993A>T | ||
| NR_049784.2:n.969A>T | ||
| NR_049785.2:n.902A>T | ||
| NR_049786.2:n.851A>T | ||
| NR_049787.2:n.702A>T | ||
| NR_049788.2:n.632A>T | ||
| NM_001267060.2:c.692A>T | NP_001253989.1:p.Lys231Met |