Linked Data
ClinVar Variation Id:
3161134
ClinVar RCV Id:
RCV004448002
dbSNP Id:
rs531893776
gnomAD v3:
17-18145965-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.18145965C>A , CM000679.2:g.18145965C>A | GRCh38 |
| NC_000017.10:g.18049279C>A , CM000679.1:g.18049279C>A | GRCh37 |
| NC_000017.9:g.17990004C>A | NCBI36 |
| NG_011634.1:g.42260C>A | |
| NG_011634.2:g.42260C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647165.2:c.6367C>A MANE Select | ENSP00000495481.1:p.Leu2123Met | |
| ENST00000205890.9:c.6367C>A | ENSP00000205890.5:p.Leu2123Met | |
| ENST00000615845.4:c.6367C>A | ENSP00000481642.1:p.Leu2123Met | |
| NM_016239.3:c.6367C>A | NP_057323.3:p.Leu2123Met | |
| XM_011523917.1:c.6307C>A | XP_011522219.1:p.Leu2103Met | |
| XM_011523918.1:c.6307C>A | XP_011522220.1:p.Leu2103Met | |
| XM_011523921.1:c.6361C>A | XP_011522223.1:p.Leu2121Met | |
| XR_934037.1:n.6966C>A | ||
| XR_934038.1:n.6966C>A | ||
| XM_011523918.2:c.6307C>A | XP_011522220.1:p.Leu2103Met | |
| XM_017024714.2:c.6307C>A | XP_016880203.1:p.Leu2103Met | |
| XM_017024715.2:c.6370C>A | XP_016880204.1:p.Leu2124Met | |
| XM_024450781.1:c.6213+1373C>A | XP_024306549.1:n.6213+1373C>A | |
| NM_016239.4:c.6367C>A MANE Select | NP_057323.3:p.Leu2123Met |