Linked Data
dbSNP Id:
rs781856439
ExAC:
X:153609253 T / C
gnomAD v2:
X-153609253-T-C
gnomAD v4:
X-154380893-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154380893T>C , CM000685.2:g.154380893T>C | GRCh38 |
| NC_000023.10:g.153609253T>C , CM000685.1:g.153609253T>C | GRCh37 |
| NC_000023.9:g.153262447T>C | NCBI36 |
| NG_008677.1:g.11458T>C , LRG_745:g.11458T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682114.1:c.461T>C | ENSP00000507245.1:p.Met154Thr | |
| ENST00000682478.1:n.651T>C | ||
| ENST00000683576.1:n.651T>C | ||
| ENST00000683627.1:c.461T>C | ENSP00000507533.1:p.Met154Thr | |
| ENST00000684082.1:c.418T>C | ENSP00000508266.1:n.418T>C | |
| ENST00000684633.1:n.433T>C | ||
| ENST00000684678.1:c.457T>C | ENSP00000507059.1:n.457T>C | |
| ENST00000369842.9:c.461T>C MANE Select | ENSP00000358857.4:p.Met154Thr | |
| ENST00000369835.3:c.356T>C | ENSP00000358850.3:p.Met119Thr | |
| ENST00000369842.8:c.461T>C | ENSP00000358857.4:p.Met154Thr | |
| ENST00000428228.5:c.*366T>C | ENSP00000401081.1:n.*366T>C | |
| ENST00000468294.5:n.500T>C | ||
| ENST00000471965.1:n.250T>C | ||
| ENST00000485261.1:n.730T>C | ||
| ENST00000486738.5:n.898T>C | ||
| ENST00000492448.1:n.444T>C | ||
| NM_000117.2:c.461T>C , LRG_745t1:c.461T>C | NP_000108.1:p.Met154Thr | |
| XM_024452349.1:c.467T>C | XP_024308117.1:p.Met156Thr | |
| NM_000117.3:c.461T>C MANE Select | NP_000108.1:p.Met154Thr |