Linked Data
ClinVar Variation Id:
1516196
ClinVar RCV Id:
RCV002023772
dbSNP Id:
rs541121385
gnomAD v3:
2-181558623-T-C
gnomAD v4:
2-181558623-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.181558623T>C , CM000664.2:g.181558623T>C | GRCh38 |
| NC_000002.11:g.182423350T>C , CM000664.1:g.182423350T>C | GRCh37 |
| NC_000002.10:g.182131595T>C | NCBI36 |
| NG_021178.1:g.103485A>G | |
| NG_021178.2:g.103485A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684145.1:c.7A>G | ENSP00000508396.1:p.Thr3Ala | |
| ENST00000410087.8:c.763A>G MANE Select | ENSP00000386725.3:p.Thr255Ala | |
| ENST00000339098.9:c.841A>G | ENSP00000341159.5:p.Thr281Ala | |
| ENST00000374967.6:c.699A>G | ENSP00000364106.2:n.699A>G | |
| ENST00000374969.6:c.482-8915A>G | ENSP00000364108.2:n.482-8915A>G | |
| ENST00000374970.6:c.614-8915A>G | ENSP00000364109.2:n.614-8915A>G | |
| ENST00000409440.7:c.709A>G | ENSP00000387080.3:p.Thr237Ala | |
| ENST00000410087.7:c.763A>G | ENSP00000386725.3:p.Thr255Ala | |
| ENST00000421817.5:c.*45A>G | ENSP00000411466.1:n.*45A>G | |
| ENST00000452174.5:c.567A>G | ENSP00000409198.1:n.567A>G | |
| ENST00000479558.5:n.761A>G | ||
| ENST00000494398.5:n.763A>G | ||
| NM_001030311.2:c.841A>G | NP_001025482.1:p.Thr281Ala | |
| NM_001030312.2:c.482-8915A>G | NP_001025483.1:n.482-8915A>G | |
| NM_001030313.2:c.614-8915A>G | NP_001025484.1:n.614-8915A>G | |
| NM_001160277.1:c.709A>G | NP_001153749.1:p.Thr237Ala | |
| NM_201548.4:c.763A>G | NP_963842.1:p.Thr255Ala | |
| NR_027689.1:n.668A>G | ||
| NR_027690.1:n.800A>G | ||
| NM_201548.5:c.763A>G MANE Select | NP_963842.1:p.Thr255Ala | |
| NM_001030311.3:c.841A>G | NP_001025482.1:p.Thr281Ala | |
| NM_001030312.3:c.482-8915A>G | NP_001025483.1:n.482-8915A>G | |
| NM_001030313.3:c.614-8915A>G | NP_001025484.1:n.614-8915A>G | |
| NM_001160277.2:c.709A>G | NP_001153749.1:p.Thr237Ala | |
| NR_027689.2:n.666A>G | ||
| NR_027690.2:n.798A>G |