Linked Data
ClinVar Variation Id:
155796
ClinVar RCV Id:
RCV000143896
RCV000199324
RCV000229340
RCV000724479
RCV000659593
RCV002277283
RCV003935229
dbSNP Id:
rs147157552
ExAC:
5:127863579 G / A
gnomAD v2:
5-127863579-G-A
gnomAD v3:
5-128527886-G-A
gnomAD v4:
5-128527886-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128527886G>A , CM000667.2:g.128527886G>A | GRCh38 |
| NC_000005.9:g.127863579G>A , CM000667.1:g.127863579G>A | GRCh37 |
| NC_000005.8:g.127891478G>A | NCBI36 |
| NG_008750.1:g.15157C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000508053.6:c.518C>T | ENSP00000424571.2:p.Thr173Ile | |
| ENST00000703787.1:n.225C>T | ||
| ENST00000262464.9:c.518C>T MANE Select | ENSP00000262464.4:p.Thr173Ile | |
| ENST00000262464.8:c.518C>T | ENSP00000262464.4:p.Thr173Ile | |
| ENST00000502468.5:c.518C>T | ENSP00000424753.1:p.Thr173Ile | |
| ENST00000508053.5:c.518C>T | ENSP00000424571.1:p.Thr173Ile | |
| ENST00000508989.5:c.419C>T | ENSP00000425596.1:p.Thr140Ile | |
| ENST00000514742.1:n.1138C>T | ||
| ENST00000619499.4:c.518C>T | ENSP00000482132.1:p.Thr173Ile | |
| ENST00000620257.1:c.518C>T | ENSP00000479157.1:p.Thr173Ile | |
| NM_001999.3:c.518C>T | NP_001990.2:p.Thr173Ile | |
| XM_017009228.2:c.518C>T | XP_016864717.1:p.Thr173Ile | |
| NM_001999.4:c.518C>T MANE Select | NP_001990.2:p.Thr173Ile |