Linked Data
ClinVar Variation Id:
165324
dbSNP Id:
rs139848805
ExAC:
15:43910121 C / T
gnomAD v2:
15-43910121-C-T
gnomAD v3:
15-43617923-C-T
gnomAD v4:
15-43617923-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43617923C>T , CM000677.2:g.43617923C>T | GRCh38 |
| NC_000015.9:g.43910121C>T , CM000677.1:g.43910121C>T | GRCh37 |
| NC_000015.8:g.41697413C>T | NCBI36 |
| NG_011636.1:g.5878G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450892.7:c.498G>A MANE Select | ENSP00000401513.2:p.Pro166= | |
| ENST00000643290.1:c.823G>A | ENSP00000495476.1:n.823G>A | |
| ENST00000428650.5:c.498G>A | ENSP00000415991.1:p.Pro166= | |
| ENST00000432436.1:c.318G>A | ENSP00000407303.1:p.Pro106= | |
| ENST00000440125.5:c.498G>A | ENSP00000394866.1:p.Pro166= | |
| ENST00000450892.6:c.498G>A | ENSP00000401513.2:p.Pro166= | |
| ENST00000541030.5:c.-1612G>A | ENSP00000440413.1:n.-1612G>A | |
| NM_153700.2:c.498G>A MANE Select | NP_714544.1:p.Pro166= | |
| XM_011521277.1:c.987G>A | XP_011519579.1:p.Pro329= | |
| XM_011521278.1:c.498G>A | XP_011519580.1:p.Pro166= | |
| XM_011521279.1:c.498G>A | XP_011519581.1:p.Pro166= |