Linked Data
ClinVar Variation Id:
255203
ClinVar RCV Id:
RCV000242383
RCV000275358
RCV000315209
RCV000369930
RCV000400869
RCV001723832
RCV003761849
dbSNP Id:
rs6019
ExAC:
1:169541513 C / G
gnomAD v2:
1-169541513-C-G
gnomAD v3:
1-169572275-C-G
gnomAD v4:
1-169572275-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169572275C>G , CM000663.2:g.169572275C>G | GRCh38 |
| NC_000001.10:g.169541513C>G , CM000663.1:g.169541513C>G | GRCh37 |
| NC_000001.9:g.167808137C>G | NCBI36 |
| NG_011806.1:g.19257G>C , LRG_553:g.19257G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367797.9:c.319G>C MANE Select | ENSP00000356771.3:p.Asp107His | |
| ENST00000367796.3:c.319G>C | ENSP00000356770.3:p.Asp107His | |
| ENST00000367797.7:c.319G>C | ENSP00000356771.3:p.Asp107His | |
| NM_000130.4:c.319G>C , LRG_553t1:c.319G>C | NP_000121.2:p.Asp107His | |
| XM_017000660.2:c.-93G>C | XP_016856149.1:n.-93G>C | |
| NM_000130.5:c.319G>C MANE Select | NP_000121.2:p.Asp107His |