Linked Data
ClinVar Variation Id:
1127085
ClinVar RCV Id:
RCV001459348
dbSNP Id:
rs2113697685
MyVariant Identifiers:
chr5:g.149359915G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149980352G>A , CM000667.2:g.149980352G>A | GRCh38 |
| NC_000005.9:g.149359915G>A , CM000667.1:g.149359915G>A | GRCh37 |
| NC_000005.8:g.149340108G>A | NCBI36 |
| NG_007147.2:g.21470G>A , LRG_684:g.21470G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286298.5:c.759G>A MANE Select | ENSP00000286298.4:p.Leu253= | |
| ENST00000286298.4:c.759G>A | ENSP00000286298.4:p.Leu253= | |
| ENST00000503336.1:c.372+2001G>A | ENSP00000426053.1:n.372+2001G>A | |
| NM_000112.3:c.759G>A , LRG_684t1:c.759G>A | NP_000103.2:p.Leu253= | |
| XM_017009191.2:c.759G>A | XP_016864680.1:p.Leu253= | |
| NM_000112.4:c.759G>A MANE Select | NP_000103.2:p.Leu253= |