Linked Data
dbSNP Id:
rs751020678
ExAC:
7:150699040 C / T
gnomAD v2:
7-150699040-C-T
gnomAD v3:
7-151001952-C-T
gnomAD v4:
7-151001952-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.151001952C>T , CM000669.2:g.151001952C>T | GRCh38 |
| NC_000007.13:g.150699040C>T , CM000669.1:g.150699040C>T | GRCh37 |
| NC_000007.12:g.150329973C>T | NCBI36 |
| NG_011992.1:g.15894C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297494.8:c.1634C>T MANE Select | ENSP00000297494.3:p.Ala545Val | |
| ENST00000297494.7:c.1634C>T | ENSP00000297494.3:p.Ala545Val | |
| ENST00000460603.1:n.86C>T | ||
| ENST00000461406.5:c.1016C>T | ENSP00000417143.1:p.Ala339Val | |
| ENST00000467517.1:c.1634C>T | ENSP00000420551.1:p.Ala545Val | |
| ENST00000484524.5:c.1634C>T | ENSP00000420215.1:p.Ala545Val | |
| NM_000603.4:c.1634C>T | NP_000594.2:p.Ala545Val | |
| NM_001160109.1:c.1634C>T | NP_001153581.1:p.Ala545Val | |
| NM_001160110.1:c.1634C>T | NP_001153582.1:p.Ala545Val | |
| NM_001160111.1:c.1634C>T | NP_001153583.1:p.Ala545Val | |
| XM_006716002.2:c.1634C>T | XP_006716065.1:p.Ala545Val | |
| NM_000603.5:c.1634C>T MANE Select | NP_000594.2:p.Ala545Val | |
| NM_001160109.2:c.1634C>T | NP_001153581.1:p.Ala545Val |