Linked Data
ClinVar Variation Id:
1084257
ClinVar RCV Id:
RCV001401230
dbSNP Id:
rs2113695822
MyVariant Identifiers:
chr5:g.149357494T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149977931T>C , CM000667.2:g.149977931T>C | GRCh38 |
| NC_000005.9:g.149357494T>C , CM000667.1:g.149357494T>C | GRCh37 |
| NC_000005.8:g.149337687T>C | NCBI36 |
| NG_007147.2:g.19049T>C , LRG_684:g.19049T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000690410.1:n.511T>C | ||
| ENST00000286298.5:c.279T>C MANE Select | ENSP00000286298.4:p.Leu93= | |
| ENST00000286298.4:c.279T>C | ENSP00000286298.4:p.Leu93= | |
| NM_000112.3:c.279T>C , LRG_684t1:c.279T>C | NP_000103.2:p.Leu93= | |
| XM_017009191.2:c.279T>C | XP_016864680.1:p.Leu93= | |
| NM_000112.4:c.279T>C MANE Select | NP_000103.2:p.Leu93= |