Linked Data
ClinVar Variation Id:
160131
ClinVar RCV Id:
RCV000147776
dbSNP Id:
rs587784477
gnomAD v4:
17-75524342-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75524342T>C , CM000679.2:g.75524342T>C | GRCh38 |
| NC_000017.10:g.73520423T>C , CM000679.1:g.73520423T>C | GRCh37 |
| NC_000017.9:g.71032018T>C | NCBI36 |
| NG_013041.1:g.12815T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000333213.11:c.1511T>C MANE Select | ENSP00000327487.6:p.Leu504Pro | |
| ENST00000434205.8:c.1208T>C | ENSP00000406559.4:p.Leu403Pro | |
| ENST00000545228.3:c.*10T>C | ENSP00000438169.3:n.*10T>C | |
| ENST00000577197.2:n.709T>C | ||
| ENST00000579449.2:n.2251T>C | ||
| ENST00000580013.6:n.2655T>C | ||
| ENST00000679370.1:n.3033T>C | ||
| ENST00000679429.1:c.*969T>C | ENSP00000505403.1:n.*969T>C | |
| ENST00000679443.1:n.1580T>C | ||
| ENST00000679782.1:c.*210T>C | ENSP00000505995.1:n.*210T>C | |
| ENST00000679919.1:n.1782T>C | ||
| ENST00000679928.1:c.*2063T>C | ENSP00000506071.1:n.*2063T>C | |
| ENST00000680528.1:n.2477T>C | ||
| ENST00000680999.1:c.1724T>C | ENSP00000504984.1:p.Leu575Pro | |
| ENST00000681282.1:c.*1698T>C | ENSP00000506339.1:n.*1698T>C | |
| ENST00000333213.10:c.1511T>C | ENSP00000327487.6:p.Leu504Pro | |
| ENST00000545228.2:c.788T>C | ||
| ENST00000577197.1:n.259T>C | ||
| ENST00000579449.1:n.708T>C | ||
| NM_207346.2:c.1511T>C | NP_997229.2:p.Leu504Pro | |
| XM_005257229.2:c.*10T>C | XP_005257286.1:n.*10T>C | |
| XM_006721821.2:c.*10T>C | XP_006721884.1:n.*10T>C | |
| XM_011524616.1:c.*10T>C | XP_011522918.1:n.*10T>C | |
| XM_011524617.1:c.*93T>C | XP_011522919.1:n.*93T>C | |
| XM_011524618.1:c.1394T>C | XP_011522920.1:p.Leu465Pro | |
| XR_243646.2:n.1743T>C | ||
| XM_005257229.4:c.*10T>C | XP_005257286.1:n.*10T>C | |
| XR_001753015.1:n.56A>G | ||
| XR_001753016.1:n.57A>G | ||
| XR_243646.4:n.1749T>C | ||
| NM_207346.3:c.1511T>C MANE Select | NP_997229.2:p.Leu504Pro |