Linked Data
ClinVar Variation Id:
2182839
ClinVar RCV Id:
RCV002592223
dbSNP Id:
rs774932788
ExAC:
17:61914897 G / A
gnomAD v2:
17-61914897-G-A
gnomAD v4:
17-63837537-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63837537G>A , CM000679.2:g.63837537G>A | GRCh38 |
| NC_000017.10:g.61914897G>A , CM000679.1:g.61914897G>A | GRCh37 |
| NC_000017.9:g.59268629G>A | NCBI36 |
| NG_053004.1:g.10455C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697953.1:n.193C>T | ||
| ENST00000698016.1:c.164C>T | ENSP00000513502.1:p.Pro55Leu | |
| ENST00000698022.1:c.122C>T | ENSP00000513504.1:p.Pro41Leu | |
| ENST00000698027.1:c.164C>T | ENSP00000513505.1:p.Pro55Leu | |
| ENST00000448276.7:c.305C>T MANE Select | ENSP00000392617.2:p.Pro102Leu | |
| ENST00000225742.13:c.80C>T | ENSP00000225742.9:p.Pro27Leu | |
| ENST00000323347.14:c.161C>T | ENSP00000318451.10:p.Pro54Leu | |
| ENST00000448276.6:c.305C>T | ENSP00000392617.2:p.Pro102Leu | |
| ENST00000577686.1:n.53-300C>T | ||
| ENST00000580054.1:c.89C>T | ENSP00000463793.1:p.Pro30Leu | |
| ENST00000584400.5:c.217-300C>T | ENSP00000464503.1:n.217-300C>T | |
| ENST00000613943.4:c.194C>T | ENSP00000483605.1:p.Pro65Leu | |
| NM_001098426.1:c.305C>T | NP_001091896.1:p.Pro102Leu | |
| XM_005257604.2:c.80C>T | XP_005257661.2:p.Pro27Leu | |
| NM_001330439.1:c.80C>T | NP_001317368.1:p.Pro27Leu | |
| NM_001330440.1:c.161C>T | NP_001317369.1:p.Pro54Leu | |
| NM_001098426.2:c.305C>T MANE Select | NP_001091896.1:p.Pro102Leu | |
| NM_001330440.2:c.161C>T | NP_001317369.1:p.Pro54Leu |