Linked Data
ClinVar Variation Id:
498258
dbSNP Id:
rs151074632
gnomAD v3:
X-154380927-G-T
gnomAD v4:
X-154380927-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154380927G>T , CM000685.2:g.154380927G>T | GRCh38 |
| NC_000023.10:g.153609287G>T , CM000685.1:g.153609287G>T | GRCh37 |
| NC_000023.9:g.153262481G>T | NCBI36 |
| NG_008677.1:g.11492G>T , LRG_745:g.11492G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682114.1:c.495G>T | ENSP00000507245.1:p.Thr165= | |
| ENST00000682478.1:n.685G>T | ||
| ENST00000683576.1:n.685G>T | ||
| ENST00000683627.1:c.495G>T | ENSP00000507533.1:p.Thr165= | |
| ENST00000684082.1:c.452G>T | ENSP00000508266.1:n.452G>T | |
| ENST00000684633.1:n.467G>T | ||
| ENST00000684678.1:c.491G>T | ENSP00000507059.1:n.491G>T | |
| ENST00000369842.9:c.495G>T MANE Select | ENSP00000358857.4:p.Thr165= | |
| ENST00000369835.3:c.390G>T | ENSP00000358850.3:p.Thr130= | |
| ENST00000369842.8:c.495G>T | ENSP00000358857.4:p.Thr165= | |
| ENST00000428228.5:c.*400G>T | ENSP00000401081.1:n.*400G>T | |
| ENST00000471965.1:n.284G>T | ||
| ENST00000485261.1:n.764G>T | ||
| ENST00000486738.5:n.932G>T | ||
| ENST00000492448.1:n.478G>T | ||
| NM_000117.2:c.495G>T , LRG_745t1:c.495G>T | NP_000108.1:p.Thr165= | |
| XM_024452349.1:c.501G>T | XP_024308117.1:p.Thr167= | |
| NM_000117.3:c.495G>T MANE Select | NP_000108.1:p.Thr165= |