Linked Data
dbSNP Id:
rs755200200
ExAC:
9:34647178 C / G
gnomAD v2:
9-34647178-C-G
gnomAD v4:
9-34647181-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34647181C>G , CM000671.2:g.34647181C>G | GRCh38 |
| NC_000009.11:g.34647178C>G , CM000671.1:g.34647178C>G | GRCh37 |
| NC_000009.10:g.34637178C>G | NCBI36 |
| NG_009029.1:g.5544C>G | |
| NG_009029.2:g.5593C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691183.1:c.175C>G | ENSP00000509954.1:p.Pro59Ala | |
| ENST00000378842.8:c.175C>G MANE Select | ENSP00000368119.4:p.Pro59Ala | |
| ENST00000378842.7:c.175C>G | ENSP00000368119.3:p.Pro59Ala | |
| ENST00000450095.6:c.-28C>G | ENSP00000401956.2:n.-28C>G | |
| ENST00000465543.6:n.514C>G | ||
| ENST00000468099.2:n.215C>G | ||
| ENST00000472111.5:n.216C>G | ||
| ENST00000473506.6:c.175C>G | ENSP00000432839.2:p.Pro59Ala | |
| ENST00000473529.5:n.222C>G | ||
| ENST00000485531.1:n.168C>G | ||
| ENST00000487381.5:n.201C>G | ||
| ENST00000489643.6:n.205C>G | ||
| ENST00000554085.5:c.175C>G | ENSP00000450419.1:p.Pro59Ala | |
| ENST00000554139.5:n.228C>G | ||
| ENST00000554330.5:n.172C>G | ||
| ENST00000554550.5:c.175C>G | ENSP00000451435.1:p.Pro59Ala | |
| ENST00000554638.5:n.199C>G | ||
| ENST00000554897.5:c.175C>G | ENSP00000450942.1:p.Pro59Ala | |
| ENST00000554944.5:n.205C>G | ||
| ENST00000555020.5:n.205C>G | ||
| ENST00000555086.5:n.179C>G | ||
| ENST00000555214.5:n.184C>G | ||
| ENST00000556157.1:n.282C>G | ||
| ENST00000556244.1:c.59C>G | ||
| ENST00000556278.1:c.175C>G | ENSP00000451792.1:p.Pro59Ala | |
| ENST00000556403.5:n.188C>G | ||
| ENST00000556494.5:n.207C>G | ||
| ENST00000557541.5:n.368C>G | ||
| ENST00000557706.5:n.289C>G | ||
| NM_000155.3:c.175C>G | NP_000146.2:p.Pro59Ala | |
| NM_001258332.1:c.-28C>G | NP_001245261.1:n.-28C>G | |
| NM_000155.4:c.175C>G MANE Select | NP_000146.2:p.Pro59Ala | |
| NM_001258332.2:c.-28C>G | NP_001245261.1:n.-28C>G |