Linked Data
ClinVar Variation Id:
289762
ClinVar RCV Id:
RCV000347322
dbSNP Id:
rs782806462
ExAC:
X:153609252 A / G
gnomAD v2:
X-153609252-A-G
gnomAD v4:
X-154380892-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154380892A>G , CM000685.2:g.154380892A>G | GRCh38 |
| NC_000023.10:g.153609252A>G , CM000685.1:g.153609252A>G | GRCh37 |
| NC_000023.9:g.153262446A>G | NCBI36 |
| NG_008677.1:g.11457A>G , LRG_745:g.11457A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682114.1:c.460A>G | ENSP00000507245.1:p.Met154Val | |
| ENST00000682478.1:n.650A>G | ||
| ENST00000683576.1:n.650A>G | ||
| ENST00000683627.1:c.460A>G | ENSP00000507533.1:p.Met154Val | |
| ENST00000684082.1:c.417A>G | ENSP00000508266.1:n.417A>G | |
| ENST00000684633.1:n.432A>G | ||
| ENST00000684678.1:c.456A>G | ENSP00000507059.1:n.456A>G | |
| ENST00000369842.9:c.460A>G MANE Select | ENSP00000358857.4:p.Met154Val | |
| ENST00000369835.3:c.355A>G | ENSP00000358850.3:p.Met119Val | |
| ENST00000369842.8:c.460A>G | ENSP00000358857.4:p.Met154Val | |
| ENST00000428228.5:c.*365A>G | ENSP00000401081.1:n.*365A>G | |
| ENST00000468294.5:n.499A>G | ||
| ENST00000471965.1:n.249A>G | ||
| ENST00000485261.1:n.729A>G | ||
| ENST00000486738.5:n.897A>G | ||
| ENST00000492448.1:n.443A>G | ||
| NM_000117.2:c.460A>G , LRG_745t1:c.460A>G | NP_000108.1:p.Met154Val | |
| XM_024452349.1:c.466A>G | XP_024308117.1:p.Met156Val | |
| NM_000117.3:c.460A>G MANE Select | NP_000108.1:p.Met154Val |