Linked Data
ClinVar Variation Id:
2898359
ClinVar RCV Id:
RCV003726357
dbSNP Id:
rs772071782
ExAC:
17:61914896 C / T
gnomAD v2:
17-61914896-C-T
gnomAD v3:
17-63837536-C-T
gnomAD v4:
17-63837536-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63837536C>T , CM000679.2:g.63837536C>T | GRCh38 |
| NC_000017.10:g.61914896C>T , CM000679.1:g.61914896C>T | GRCh37 |
| NC_000017.9:g.59268628C>T | NCBI36 |
| NG_053004.1:g.10456G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697953.1:n.194G>A | ||
| ENST00000698016.1:c.165G>A | ENSP00000513502.1:p.Pro55= | |
| ENST00000698022.1:c.123G>A | ENSP00000513504.1:p.Pro41= | |
| ENST00000698027.1:c.165G>A | ENSP00000513505.1:p.Pro55= | |
| ENST00000448276.7:c.306G>A MANE Select | ENSP00000392617.2:p.Pro102= | |
| ENST00000225742.13:c.81G>A | ENSP00000225742.9:p.Pro27= | |
| ENST00000323347.14:c.162G>A | ENSP00000318451.10:p.Pro54= | |
| ENST00000448276.6:c.306G>A | ENSP00000392617.2:p.Pro102= | |
| ENST00000577686.1:n.53-299G>A | ||
| ENST00000580054.1:c.90G>A | ENSP00000463793.1:p.Pro30= | |
| ENST00000584400.5:c.217-299G>A | ENSP00000464503.1:n.217-299G>A | |
| ENST00000613943.4:c.195G>A | ENSP00000483605.1:p.Pro65= | |
| NM_001098426.1:c.306G>A | NP_001091896.1:p.Pro102= | |
| XM_005257604.2:c.81G>A | XP_005257661.2:p.Pro27= | |
| NM_001330439.1:c.81G>A | NP_001317368.1:p.Pro27= | |
| NM_001330440.1:c.162G>A | NP_001317369.1:p.Pro54= | |
| NM_001098426.2:c.306G>A MANE Select | NP_001091896.1:p.Pro102= | |
| NM_001330440.2:c.162G>A | NP_001317369.1:p.Pro54= |