Linked Data
ClinVar Variation Id:
574980
ClinVar RCV Id:
RCV000697056
dbSNP Id:
rs1280733586
gnomAD v3:
6-158977635-G-A
gnomAD v4:
6-158977635-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.158977635G>A , CM000668.2:g.158977635G>A | GRCh38 |
| NC_000006.11:g.159398667G>A , CM000668.1:g.159398667G>A | GRCh37 |
| NC_000006.10:g.159318655G>A | NCBI36 |
| NG_051819.1:g.27553C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367069.7:c.1160C>T MANE Select | ENSP00000356036.1:p.Ser387Leu | |
| ENST00000252655.1:c.1586C>T | ENSP00000252655.1:p.Ser529Leu | |
| ENST00000367069.6:c.1160C>T | ENSP00000356036.1:p.Ser387Leu | |
| ENST00000449822.5:c.872C>T | ENSP00000393195.1:p.Ser291Leu | |
| NM_031924.4:c.1586C>T | NP_114130.3:p.Ser529Leu | |
| XM_005267153.3:c.1298C>T | XP_005267210.1:p.Ser433Leu | |
| XR_245553.2:n.2042C>T | ||
| NM_001346418.1:c.1298C>T | NP_001333347.1:p.Ser433Leu | |
| NM_031924.5:c.1586C>T | NP_114130.3:p.Ser529Leu | |
| NR_144434.1:n.1797C>T | ||
| XM_017011347.2:c.770C>T | XP_016866836.1:p.Ser257Leu | |
| XM_024446566.1:c.770C>T | XP_024302334.1:p.Ser257Leu | |
| XR_001743668.2:n.2036C>T | ||
| XR_001743669.2:n.2036C>T | ||
| XR_001743670.2:n.1748C>T | ||
| XR_001743671.2:n.1242C>T | ||
| NM_031924.6:c.1586C>T | NP_114130.3:p.Ser529Leu | |
| NM_031924.8:c.1160C>T MANE Select | NP_114130.4:p.Ser387Leu |