Linked Data
ClinVar Variation Id:
1040875
ClinVar RCV Id:
RCV001344598
dbSNP Id:
rs1273663676
gnomAD v2:
2-182423314-G-T
gnomAD v3:
2-181558587-G-T
gnomAD v4:
2-181558587-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.181558587G>T , CM000664.2:g.181558587G>T | GRCh38 |
| NC_000002.11:g.182423314G>T , CM000664.1:g.182423314G>T | GRCh37 |
| NC_000002.10:g.182131559G>T | NCBI36 |
| NG_021178.1:g.103521C>A | |
| NG_021178.2:g.103521C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684145.1:c.43C>A | ENSP00000508396.1:p.Pro15Thr | |
| ENST00000410087.8:c.799C>A MANE Select | ENSP00000386725.3:p.Pro267Thr | |
| ENST00000339098.9:c.877C>A | ENSP00000341159.5:p.Pro293Thr | |
| ENST00000374967.6:c.735C>A | ENSP00000364106.2:n.735C>A | |
| ENST00000374969.6:c.482-8879C>A | ENSP00000364108.2:n.482-8879C>A | |
| ENST00000374970.6:c.614-8879C>A | ENSP00000364109.2:n.614-8879C>A | |
| ENST00000409440.7:c.745C>A | ENSP00000387080.3:p.Pro249Thr | |
| ENST00000410087.7:c.799C>A | ENSP00000386725.3:p.Pro267Thr | |
| ENST00000421817.5:c.*81C>A | ENSP00000411466.1:n.*81C>A | |
| ENST00000452174.5:c.603C>A | ENSP00000409198.1:n.603C>A | |
| ENST00000479558.5:n.797C>A | ||
| ENST00000494398.5:n.799C>A | ||
| NM_001030311.2:c.877C>A | NP_001025482.1:p.Pro293Thr | |
| NM_001030312.2:c.482-8879C>A | NP_001025483.1:n.482-8879C>A | |
| NM_001030313.2:c.614-8879C>A | NP_001025484.1:n.614-8879C>A | |
| NM_001160277.1:c.745C>A | NP_001153749.1:p.Pro249Thr | |
| NM_201548.4:c.799C>A | NP_963842.1:p.Pro267Thr | |
| NR_027689.1:n.704C>A | ||
| NR_027690.1:n.836C>A | ||
| NM_201548.5:c.799C>A MANE Select | NP_963842.1:p.Pro267Thr | |
| NM_001030311.3:c.877C>A | NP_001025482.1:p.Pro293Thr | |
| NM_001030312.3:c.482-8879C>A | NP_001025483.1:n.482-8879C>A | |
| NM_001030313.3:c.614-8879C>A | NP_001025484.1:n.614-8879C>A | |
| NM_001160277.2:c.745C>A | NP_001153749.1:p.Pro249Thr | |
| NR_027689.2:n.702C>A | ||
| NR_027690.2:n.834C>A |