Linked Data
ClinVar Variation Id:
2416440
ClinVar RCV Id:
RCV003107189
dbSNP Id:
rs796051967
gnomAD v2:
9-34648997-C-T
gnomAD v3:
9-34649000-C-T
gnomAD v4:
9-34649000-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34649000C>T , CM000671.2:g.34649000C>T | GRCh38 |
| NC_000009.11:g.34648997C>T , CM000671.1:g.34648997C>T | GRCh37 |
| NC_000009.10:g.34638997C>T | NCBI36 |
| NG_009029.1:g.7363C>T | |
| NG_028966.1:g.1816C>T | |
| NG_009029.2:g.7412C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691183.1:c.*411C>T | ENSP00000509954.1:n.*411C>T | |
| ENST00000378842.8:c.823C>T MANE Select | ENSP00000368119.4:p.Leu275= | |
| ENST00000378842.7:c.823C>T | ENSP00000368119.3:p.Leu275= | |
| ENST00000450095.6:c.496C>T | ENSP00000401956.2:p.Leu166= | |
| ENST00000488412.2:n.79C>T | ||
| ENST00000489643.6:n.903C>T | ||
| ENST00000554085.5:c.*567C>T | ENSP00000450419.1:n.*567C>T | |
| ENST00000554550.5:c.*443C>T | ENSP00000451435.1:n.*443C>T | |
| ENST00000554638.5:n.1295C>T | ||
| ENST00000555020.5:n.1284C>T | ||
| ENST00000555086.5:n.930C>T | ||
| ENST00000555754.1:n.271C>T | ||
| ENST00000556278.1:c.432+544C>T | ENSP00000451792.1:n.432+544C>T | |
| ENST00000557706.5:n.1398C>T | ||
| NM_000155.3:c.823C>T | NP_000146.2:p.Leu275= | |
| NM_001258332.1:c.496C>T | NP_001245261.1:p.Leu166= | |
| NM_000155.4:c.823C>T MANE Select | NP_000146.2:p.Leu275= | |
| NM_001258332.2:c.496C>T | NP_001245261.1:p.Leu166= |