Linked Data
ClinVar Variation Id:
523181
ClinVar RCV Id:
RCV000626464
dbSNP Id:
rs1417500285
gnomAD v3:
16-1562007-G-A
gnomAD v4:
16-1562007-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1562007G>A , CM000678.2:g.1562007G>A | GRCh38 |
| NC_000016.9:g.1612008G>A , CM000678.1:g.1612008G>A | GRCh37 |
| NC_000016.8:g.1552009G>A | NCBI36 |
| NG_032783.1:g.55102C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426508.7:c.2177C>T MANE Select | ENSP00000406012.2:p.Pro726Leu | |
| ENST00000397417.6:c.*729C>T | ENSP00000380562.2:n.*729C>T | |
| ENST00000426508.6:c.2177C>T | ENSP00000406012.2:p.Pro726Leu | |
| ENST00000439987.6:n.2238C>T | ||
| ENST00000561954.1:n.224C>T | ||
| ENST00000565298.5:n.865C>T | ||
| NM_014714.3:c.2177C>T | NP_055529.2:p.Pro726Leu | |
| XM_005255725.3:c.2177C>T | XP_005255782.1:p.Pro726Leu | |
| XM_005255726.2:c.2177C>T | XP_005255783.1:p.Pro726Leu | |
| XM_006720989.2:c.2177C>T | XP_006721052.1:p.Pro726Leu | |
| XM_006720990.2:c.2177C>T | XP_006721053.1:p.Pro726Leu | |
| XM_006720991.2:c.2177C>T | XP_006721054.1:p.Pro726Leu | |
| XM_011522766.1:c.1931C>T | XP_011521068.1:p.Pro644Leu | |
| XM_011522767.1:c.1202C>T | XP_011521069.1:p.Pro401Leu | |
| XM_011522768.1:c.2177C>T | XP_011521070.1:p.Pro726Leu | |
| XM_011522769.1:c.2177C>T | XP_011521071.1:p.Pro726Leu | |
| XM_011522771.1:c.2177C>T | XP_011521073.1:p.Pro726Leu | |
| XM_011522772.1:c.2177C>T | XP_011521074.1:p.Pro726Leu | |
| XM_005255725.5:c.2177C>T | XP_005255782.1:p.Pro726Leu | |
| XM_005255726.4:c.2177C>T | XP_005255783.1:p.Pro726Leu | |
| XM_006720990.3:c.2177C>T | XP_006721053.1:p.Pro726Leu | |
| XM_006720991.3:c.2177C>T | XP_006721054.1:p.Pro726Leu | |
| XM_011522766.3:c.1931C>T | XP_011521068.1:p.Pro644Leu | |
| XM_011522767.2:c.1202C>T | XP_011521069.1:p.Pro401Leu | |
| XM_011522769.3:c.2177C>T | XP_011521071.1:p.Pro726Leu | |
| XM_011522771.3:c.2177C>T | XP_011521073.1:p.Pro726Leu | |
| XM_011522772.3:c.2177C>T | XP_011521074.1:p.Pro726Leu | |
| XM_017023910.1:c.2177C>T | XP_016879399.1:p.Pro726Leu | |
| XM_017023911.1:c.362C>T | XP_016879400.1:p.Pro121Leu | |
| NM_014714.4:c.2177C>T MANE Select | NP_055529.2:p.Pro726Leu |