Linked Data
dbSNP Id:
rs746481213
ExAC:
10:50678668 G / A
gnomAD v2:
10-50678668-G-A
gnomAD v3:
10-49470622-G-A
gnomAD v4:
10-49470622-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.49470622G>A , CM000672.2:g.49470622G>A | GRCh38 |
| NC_000010.10:g.50678668G>A , CM000672.1:g.50678668G>A | GRCh37 |
| NC_000010.9:g.50348674G>A | NCBI36 |
| NG_009442.1:g.73480C>T , LRG_465:g.73480C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355832.10:c.3338C>T MANE Select | ENSP00000348089.5:p.Ala1113Val | |
| ENST00000679552.1:n.409C>T | ||
| ENST00000679871.1:n.484C>T | ||
| ENST00000679974.1:n.387C>T | ||
| ENST00000681632.1:n.4741C>T | ||
| ENST00000681659.1:c.3179C>T | ENSP00000505631.1:p.Ala1060Val | |
| ENST00000355832.9:c.3338C>T | ENSP00000348089.5:p.Ala1113Val | |
| ENST00000623073.3:c.*1634C>T | ENSP00000485650.1:n.*1634C>T | |
| ENST00000623115.3:c.1448C>T | ENSP00000485321.1:p.Ala483Val | |
| ENST00000624341.3:c.1170C>T | ||
| NM_000124.3:c.3338C>T | NP_000115.1:p.Ala1113Val | |
| XR_945953.1:n.243-943G>A | ||
| NM_001346440.1:c.3338C>T | NP_001333369.1:p.Ala1113Val | |
| NM_000124.4:c.3338C>T MANE Select | NP_000115.1:p.Ala1113Val | |
| NM_001346440.2:c.3338C>T | NP_001333369.1:p.Ala1113Val |