Linked Data
dbSNP Id:
rs371258192
ExAC:
9:34647147 C / T
gnomAD v2:
9-34647147-C-T
gnomAD v3:
9-34647150-C-T
gnomAD v4:
9-34647150-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34647150C>T , CM000671.2:g.34647150C>T | GRCh38 |
| NC_000009.11:g.34647147C>T , CM000671.1:g.34647147C>T | GRCh37 |
| NC_000009.10:g.34637147C>T | NCBI36 |
| NG_009029.1:g.5513C>T | |
| NG_009029.2:g.5562C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691183.1:c.144C>T | ENSP00000509954.1:p.Arg48= | |
| ENST00000378842.8:c.144C>T MANE Select | ENSP00000368119.4:p.Arg48= | |
| ENST00000378842.7:c.144C>T | ENSP00000368119.3:p.Arg48= | |
| ENST00000450095.6:c.-59C>T | ENSP00000401956.2:n.-59C>T | |
| ENST00000465543.6:n.483C>T | ||
| ENST00000468099.2:n.184C>T | ||
| ENST00000472111.5:n.185C>T | ||
| ENST00000473506.6:c.144C>T | ENSP00000432839.2:p.Arg48= | |
| ENST00000473529.5:n.191C>T | ||
| ENST00000485531.1:n.137C>T | ||
| ENST00000487381.5:n.170C>T | ||
| ENST00000489643.6:n.174C>T | ||
| ENST00000554085.5:c.144C>T | ENSP00000450419.1:p.Arg48= | |
| ENST00000554139.5:n.197C>T | ||
| ENST00000554330.5:n.141C>T | ||
| ENST00000554550.5:c.144C>T | ENSP00000451435.1:p.Arg48= | |
| ENST00000554638.5:n.168C>T | ||
| ENST00000554897.5:c.144C>T | ENSP00000450942.1:p.Arg48= | |
| ENST00000554944.5:n.174C>T | ||
| ENST00000555020.5:n.174C>T | ||
| ENST00000555086.5:n.148C>T | ||
| ENST00000555214.5:n.153C>T | ||
| ENST00000556157.1:n.251C>T | ||
| ENST00000556244.1:c.28C>T | ||
| ENST00000556278.1:c.144C>T | ENSP00000451792.1:p.Arg48= | |
| ENST00000556403.5:n.157C>T | ||
| ENST00000556494.5:n.176C>T | ||
| ENST00000557541.5:n.337C>T | ||
| ENST00000557706.5:n.258C>T | ||
| NM_000155.3:c.144C>T | NP_000146.2:p.Arg48= | |
| NM_001258332.1:c.-59C>T | NP_001245261.1:n.-59C>T | |
| NM_000155.4:c.144C>T MANE Select | NP_000146.2:p.Arg48= | |
| NM_001258332.2:c.-59C>T | NP_001245261.1:n.-59C>T |