Linked Data
ClinVar Variation Id:
1591513
ClinVar RCV Id:
RCV002096243
dbSNP Id:
rs201581427
gnomAD v4:
19-4117562-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4117562G>A , CM000681.2:g.4117562G>A | GRCh38 |
| NC_000019.9:g.4117560G>A , CM000681.1:g.4117560G>A | GRCh37 |
| NC_000019.8:g.4068560G>A | NCBI36 |
| NG_007996.1:g.11567C>T , LRG_750:g.11567C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000394867.9:n.599C>T | ||
| ENST00000687128.1:n.599C>T | ||
| ENST00000262948.10:c.160C>T MANE Select | ENSP00000262948.4:p.Leu54= | |
| ENST00000262948.9:c.160C>T | ENSP00000262948.3:p.Leu54= | |
| ENST00000394867.8:c.-132C>T | ENSP00000378336.1:n.-132C>T | |
| ENST00000599345.1:n.357C>T | ||
| NM_030662.3:c.160C>T , LRG_750t1:c.160C>T | NP_109587.1:p.Leu54= | |
| XM_006722799.2:c.160C>T | XP_006722862.1:p.Leu54= | |
| XM_017026989.1:c.160C>T | XP_016882478.1:p.Leu54= | |
| XM_017026990.1:c.160C>T | XP_016882479.1:p.Leu54= | |
| XM_017026991.1:c.160C>T | XP_016882480.1:p.Leu54= | |
| NM_030662.4:c.160C>T MANE Select | NP_109587.1:p.Leu54= |