Linked Data
ClinVar Variation Id:
1400270
ClinVar RCV Id:
RCV001896636
dbSNP Id:
rs2152068113
MyVariant Identifiers:
chr15:g.89872210G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89328979G>A , CM000677.2:g.89328979G>A | GRCh38 |
| NC_000015.9:g.89872210G>A , CM000677.1:g.89872210G>A | GRCh37 |
| NC_000015.8:g.87673214G>A | NCBI36 |
| NG_008218.1:g.10817C>T | |
| NG_008218.2:g.10817C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.987C>T | ENSP00000516154.1:p.Gly329= | |
| ENST00000268124.11:c.987C>T MANE Select | ENSP00000268124.5:p.Gly329= | |
| ENST00000530292.3:c.588C>T | ENSP00000432885.2:p.Gly196= | |
| ENST00000635986.2:c.987C>T | ENSP00000490653.2:p.Gly329= | |
| ENST00000636774.1:c.987C>T | ENSP00000489799.1:p.Gly329= | |
| ENST00000637264.1:c.59C>T | ||
| ENST00000666746.1:c.644C>T | ||
| ENST00000672071.1:n.1185C>T | ||
| ENST00000268124.9:c.987C>T | ENSP00000268124.5:p.Gly329= | |
| ENST00000442287.6:c.987C>T | ENSP00000399851.2:p.Gly329= | |
| ENST00000631044.2:c.*370C>T | ENSP00000486730.1:n.*370C>T | |
| NM_001126131.1:c.987C>T | NP_001119603.1:p.Gly329= | |
| NM_002693.2:c.987C>T | NP_002684.1:p.Gly329= | |
| NM_001126131.2:c.987C>T | NP_001119603.1:p.Gly329= | |
| NM_002693.3:c.987C>T MANE Select | NP_002684.1:p.Gly329= |