Linked Data
ClinVar Variation Id:
187773
ClinVar RCV Id:
RCV000167530
dbSNP Id:
rs786203986
gnomAD v4:
13-101176371-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.101176371G>A , CM000675.2:g.101176371G>A | GRCh38 |
| NC_000013.10:g.101828722G>A , CM000675.1:g.101828722G>A | GRCh37 |
| NC_000013.9:g.100626723G>A | NCBI36 |
| NG_053176.1:g.245836C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000251127.11:c.1768C>T MANE Select | ENSP00000251127.6:p.Leu590Phe | |
| ENST00000648359.1:c.1768C>T | ENSP00000497465.1:p.Leu590Phe | |
| ENST00000674840.1:n.1866C>T | ||
| ENST00000675150.1:c.1768C>T | ENSP00000502680.1:p.Leu590Phe | |
| ENST00000675332.1:c.1768C>T | ENSP00000501955.1:p.Leu590Phe | |
| ENST00000675802.1:c.1768C>T | ENSP00000501818.1:p.Leu590Phe | |
| ENST00000675891.1:n.608C>T | ||
| ENST00000676315.1:c.1681C>T | ENSP00000501603.1:p.Leu561Phe | |
| ENST00000676439.1:n.1942C>T | ||
| ENST00000251127.10:c.1768C>T | ENSP00000251127.6:p.Leu590Phe | |
| ENST00000497170.5:n.1922C>T | ||
| NM_052867.2:c.1768C>T | NP_443099.1:p.Leu590Phe | |
| XM_011521067.1:c.1825C>T | XP_011519369.1:p.Leu609Phe | |
| XM_011521068.1:c.1768C>T | XP_011519370.1:p.Leu590Phe | |
| XM_011521069.1:c.1738C>T | XP_011519371.1:p.Leu580Phe | |
| XM_011521070.1:c.1825C>T | XP_011519372.1:p.Leu609Phe | |
| NM_001350748.1:c.1768C>T | NP_001337677.1:p.Leu590Phe | |
| NM_001350749.1:c.1768C>T | NP_001337678.1:p.Leu590Phe | |
| NM_001350750.1:c.1681C>T | NP_001337679.1:p.Leu561Phe | |
| NM_001350751.1:c.1681C>T | NP_001337680.1:p.Leu561Phe | |
| NM_052867.3:c.1768C>T | NP_443099.1:p.Leu590Phe | |
| XM_011521067.2:c.1825C>T | XP_011519369.1:p.Leu609Phe | |
| XM_011521069.2:c.1738C>T | XP_011519371.1:p.Leu580Phe | |
| XM_017020536.2:c.1321C>T | XP_016876025.1:p.Leu441Phe | |
| XM_017020537.1:c.1003C>T | XP_016876026.1:p.Leu335Phe | |
| XM_024449336.1:c.1825C>T | XP_024305104.1:p.Leu609Phe | |
| NM_052867.4:c.1768C>T MANE Select | NP_443099.1:p.Leu590Phe | |
| NM_001350748.2:c.1768C>T | NP_001337677.1:p.Leu590Phe | |
| NM_001350749.2:c.1768C>T | NP_001337678.1:p.Leu590Phe | |
| NM_001350750.2:c.1681C>T | NP_001337679.1:p.Leu561Phe | |
| NM_001350751.2:c.1681C>T | NP_001337680.1:p.Leu561Phe |