Linked Data
dbSNP Id:
rs1281720369
gnomAD v2:
2-182423394-G-A
gnomAD v3:
2-181558667-G-A
gnomAD v4:
2-181558667-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.181558667G>A , CM000664.2:g.181558667G>A | GRCh38 |
| NC_000002.11:g.182423394G>A , CM000664.1:g.182423394G>A | GRCh37 |
| NC_000002.10:g.182131639G>A | NCBI36 |
| NG_021178.1:g.103441C>T | |
| NG_021178.2:g.103441C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684145.1:c.-38C>T | ENSP00000508396.1:n.-38C>T | |
| ENST00000410087.8:c.719C>T MANE Select | ENSP00000386725.3:p.Ala240Val | |
| ENST00000339098.9:c.797C>T | ENSP00000341159.5:p.Ala266Val | |
| ENST00000374967.6:c.655C>T | ENSP00000364106.2:n.655C>T | |
| ENST00000374969.6:c.482-8959C>T | ENSP00000364108.2:n.482-8959C>T | |
| ENST00000374970.6:c.614-8959C>T | ENSP00000364109.2:n.614-8959C>T | |
| ENST00000409440.7:c.665C>T | ENSP00000387080.3:p.Ala222Val | |
| ENST00000410087.7:c.719C>T | ENSP00000386725.3:p.Ala240Val | |
| ENST00000421817.5:c.*1C>T | ENSP00000411466.1:n.*1C>T | |
| ENST00000452174.5:c.523C>T | ENSP00000409198.1:n.523C>T | |
| ENST00000466715.5:n.535C>T | ||
| ENST00000479558.5:n.717C>T | ||
| ENST00000494398.5:n.719C>T | ||
| NM_001030311.2:c.797C>T | NP_001025482.1:p.Ala266Val | |
| NM_001030312.2:c.482-8959C>T | NP_001025483.1:n.482-8959C>T | |
| NM_001030313.2:c.614-8959C>T | NP_001025484.1:n.614-8959C>T | |
| NM_001160277.1:c.665C>T | NP_001153749.1:p.Ala222Val | |
| NM_201548.4:c.719C>T | NP_963842.1:p.Ala240Val | |
| NR_027689.1:n.624C>T | ||
| NR_027690.1:n.756C>T | ||
| NM_201548.5:c.719C>T MANE Select | NP_963842.1:p.Ala240Val | |
| NM_001030311.3:c.797C>T | NP_001025482.1:p.Ala266Val | |
| NM_001030312.3:c.482-8959C>T | NP_001025483.1:n.482-8959C>T | |
| NM_001030313.3:c.614-8959C>T | NP_001025484.1:n.614-8959C>T | |
| NM_001160277.2:c.665C>T | NP_001153749.1:p.Ala222Val | |
| NR_027689.2:n.622C>T | ||
| NR_027690.2:n.754C>T |