Linked Data
dbSNP Id:
rs2055427056
gnomAD v3:
15-89323437-G-T
gnomAD v4:
15-89323437-G-T
MyVariant Identifiers:
chr15:g.89866668G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89323437G>T , CM000677.2:g.89323437G>T | GRCh38 |
| NC_000015.9:g.89866668G>T , CM000677.1:g.89866668G>T | GRCh37 |
| NC_000015.8:g.87667672G>T | NCBI36 |
| NG_008218.1:g.16359C>A | |
| NG_008218.2:g.16359C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000636937.2:c.2232C>A | ENSP00000516154.1:p.Ile744= | |
| ENST00000268124.11:c.2232C>A MANE Select | ENSP00000268124.5:p.Ile744= | |
| ENST00000530292.3:c.1833C>A | ENSP00000432885.2:p.Ile611= | |
| ENST00000635986.2:c.2232C>A | ENSP00000490653.2:p.Ile744= | |
| ENST00000636774.1:c.*799C>A | ENSP00000489799.1:n.*799C>A | |
| ENST00000637238.1:c.929C>A | ENSP00000490756.1:n.929C>A | |
| ENST00000637264.1:c.1304C>A | ||
| ENST00000666746.1:c.1809C>A | ||
| ENST00000670281.1:c.552C>A | ENSP00000499709.1:p.Ile184= | |
| ENST00000672071.1:n.2430C>A | ||
| ENST00000672923.2:n.2335C>A | ||
| ENST00000268124.9:c.2232C>A | ENSP00000268124.5:p.Ile744= | |
| ENST00000442287.6:c.2232C>A | ENSP00000399851.2:p.Ile744= | |
| ENST00000526314.2:c.539+378C>A | ||
| ENST00000526398.1:c.381C>A | ||
| ENST00000528881.2:c.1C>A | ||
| ENST00000532584.5:n.434C>A | ||
| ENST00000631044.2:c.*1656C>A | ENSP00000486730.1:n.*1656C>A | |
| NM_001126131.1:c.2232C>A | NP_001119603.1:p.Ile744= | |
| NM_002693.2:c.2232C>A | NP_002684.1:p.Ile744= | |
| NM_001126131.2:c.2232C>A | NP_001119603.1:p.Ile744= | |
| NM_002693.3:c.2232C>A MANE Select | NP_002684.1:p.Ile744= |