Linked Data
dbSNP Id:
rs572439325
ExAC:
15:58302913 C / T
gnomAD v2:
15-58302913-C-T
gnomAD v3:
15-58010715-C-T
gnomAD v4:
15-58010715-C-T
COSMIC:
COSM192324
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.58010715C>T , CM000677.2:g.58010715C>T | GRCh38 |
| NC_000015.9:g.58302913C>T , CM000677.1:g.58302913C>T | GRCh37 |
| NC_000015.8:g.56090205C>T | NCBI36 |
| NG_012259.1:g.59994G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249750.9:c.427G>A MANE Select | ENSP00000249750.4:p.Val143Ile | |
| ENST00000249750.8:c.427G>A | ENSP00000249750.4:p.Val143Ile | |
| ENST00000347587.7:c.427G>A | ENSP00000309623.3:p.Val143Ile | |
| ENST00000430119.6:c.*401G>A | ENSP00000416754.2:n.*401G>A | |
| ENST00000537372.5:c.364G>A | ENSP00000438296.1:p.Val122Ile | |
| ENST00000558231.5:c.340G>A | ENSP00000453600.1:p.Val114Ile | |
| ENST00000559266.5:n.318+3143G>A | ||
| ENST00000559517.5:c.139G>A | ENSP00000453408.1:p.Val47Ile | |
| ENST00000561070.5:c.139G>A | ENSP00000452850.1:p.Val47Ile | |
| NM_001206897.1:c.364G>A | NP_001193826.1:p.Val122Ile | |
| NM_003888.3:c.427G>A | NP_003879.2:p.Val143Ile | |
| NM_170696.2:c.427G>A | NP_733797.1:p.Val143Ile | |
| NM_170697.2:c.139G>A | NP_733798.1:p.Val47Ile | |
| XM_024450095.1:c.427G>A | XP_024305863.1:p.Val143Ile | |
| NM_003888.4:c.427G>A MANE Select | NP_003879.2:p.Val143Ile | |
| NM_170696.3:c.427G>A | NP_733797.1:p.Val143Ile | |
| NM_170697.3:c.139G>A | NP_733798.1:p.Val47Ile | |
| NM_001206897.2:c.364G>A | NP_001193826.1:p.Val122Ile |