Linked Data
ClinVar Variation Id:
37013
ClinVar RCV Id:
RCV000030690
dbSNP Id:
rs387907263
PubMed:
PMID:22693283
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.66638260C>A , CM000669.2:g.66638260C>A | GRCh38 |
| NC_000007.13:g.66103247C>A , CM000669.1:g.66103247C>A | GRCh37 |
| NC_000007.12:g.65740682C>A | NCBI36 |
| NG_028110.1:g.14380C>A | |
| NG_028110.2:g.14380C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000275532.8:c.322C>A | ENSP00000275532.4:p.Leu108Met | |
| ENST00000449064.6:c.300C>A | ||
| ENST00000503687.2:c.152C>A | ENSP00000421074.1:p.Ala51Asp | |
| ENST00000638524.1:c.147C>A | ||
| ENST00000638540.1:c.126C>A | ||
| ENST00000639828.2:c.322C>A MANE Select | ENSP00000492240.1:p.Leu108Met | |
| ENST00000639879.1:c.322C>A | ENSP00000492161.1:p.Leu108Met | |
| ENST00000640234.1:c.192C>A | ||
| ENST00000640385.1:c.322C>A | ENSP00000491193.1:p.Leu108Met | |
| ENST00000640851.1:c.322C>A | ENSP00000492577.1:p.Leu108Met | |
| ENST00000275532.7:c.322C>A | ENSP00000275532.3:p.Leu108Met | |
| ENST00000443322.1:c.322C>A | ENSP00000411624.1:p.Leu108Met | |
| ENST00000449064.5:c.152C>A | ENSP00000388463.1:p.Ala51Asp | |
| ENST00000503687.1:c.152C>A | ENSP00000421074.1:p.Ala51Asp | |
| NM_001167961.2:c.322C>A | NP_001161433.1:p.Leu108Met | |
| NM_153033.4:c.322C>A | NP_694578.1:p.Leu108Met | |
| NM_153033.5:c.322C>A MANE Select | NP_694578.1:p.Leu108Met |