Linked Data
ClinVar Variation Id:
2078159
ClinVar RCV Id:
RCV002993634
gnomAD v4:
17-42543948-T-C
MyVariant Identifiers:
chr17:g.40695966T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42543948T>C , CM000679.2:g.42543948T>C | GRCh38 |
| NC_000017.10:g.40695966T>C , CM000679.1:g.40695966T>C | GRCh37 |
| NC_000017.9:g.37949492T>C | NCBI36 |
| NG_011552.1:g.13016T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000225927.7:c.1942T>C MANE Select | ENSP00000225927.1:p.Leu648= | |
| ENST00000225927.6:c.1942T>C | ENSP00000225927.1:p.Leu648= | |
| ENST00000591587.1:c.1280T>C | ENSP00000467836.1:n.1280T>C | |
| NM_000263.3:c.1942T>C | NP_000254.2:p.Leu648= | |
| XM_006721920.2:c.1111T>C | XP_006721983.1:p.Leu371= | |
| XM_011524840.1:c.943T>C | XP_011523142.1:p.Leu315= | |
| XM_017024687.1:c.1111T>C | XP_016880176.1:p.Leu371= | |
| XM_024450771.1:c.1999T>C | XP_024306539.1:p.Leu667= | |
| XM_024450772.1:c.943T>C | XP_024306540.1:p.Leu315= | |
| NM_000263.4:c.1942T>C MANE Select | NP_000254.2:p.Leu648= |