Linked Data
dbSNP Id:
rs199715246
ExAC:
17:61564406 G / A
gnomAD v2:
17-61564406-G-A
gnomAD v3:
17-63487045-G-A
gnomAD v4:
17-63487045-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63487045G>A , CM000679.2:g.63487045G>A | GRCh38 |
| NC_000017.10:g.61564406G>A , CM000679.1:g.61564406G>A | GRCh37 |
| NC_000017.9:g.58918138G>A | NCBI36 |
| NG_011648.1:g.14973G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290866.10:c.2277G>A MANE Select | ENSP00000290866.4:p.Pro759= | |
| ENST00000290863.10:c.555G>A | ENSP00000290863.6:p.Pro185= | |
| ENST00000290866.9:c.2277G>A | ENSP00000290866.4:p.Pro759= | |
| ENST00000413513.7:c.555G>A | ENSP00000392247.3:p.Pro185= | |
| ENST00000428043.5:c.2277G>A | ENSP00000397593.2:p.Pro759= | |
| ENST00000577647.2:c.555G>A | ENSP00000464149.1:p.Pro185= | |
| ENST00000578839.5:c.*347G>A | ENSP00000462110.2:n.*347G>A | |
| ENST00000579204.1:c.458G>A | ENSP00000464629.1:n.458G>A | |
| ENST00000579314.5:c.555G>A | ENSP00000462599.1:p.Pro185= | |
| ENST00000579726.5:c.839G>A | ||
| ENST00000582005.5:c.*197G>A | ENSP00000462002.1:n.*197G>A | |
| ENST00000582761.1:c.45G>A | ENSP00000462909.1:p.Pro15= | |
| ENST00000584865.5:n.223G>A | ||
| NM_000789.3:c.2277G>A | NP_000780.1:p.Pro759= | |
| NM_001178057.1:c.555G>A | NP_001171528.1:p.Pro185= | |
| NM_152830.2:c.555G>A | NP_690043.1:p.Pro185= | |
| XM_005257110.1:c.1728G>A | XP_005257167.1:p.Pro576= | |
| XM_006721737.2:c.615G>A | XP_006721800.2:p.Pro205= | |
| XM_006721737.3:c.615G>A | XP_006721800.2:p.Pro205= | |
| NM_000789.4:c.2277G>A MANE Select | NP_000780.1:p.Pro759= | |
| NM_001178057.2:c.555G>A | NP_001171528.1:p.Pro185= | |
| NM_152830.3:c.555G>A | NP_690043.1:p.Pro185= | |
| NM_001382700.1:c.1710G>A | NP_001369629.1:p.Pro570= | |
| NM_001382701.1:c.1425G>A | NP_001369630.1:p.Pro475= | |
| NM_001382702.1:c.207G>A | NP_001369631.1:p.Pro69= | |
| NR_168483.1:n.577G>A |