Linked Data
ClinVar Variation Id:
13530
ClinVar RCV Id:
RCV000014485
dbSNP Id:
rs121918036
PubMed:
PMID:8481514
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129061849A>G , CM000665.2:g.129061849A>G | GRCh38 |
| NC_000003.11:g.128780692A>G , CM000665.1:g.128780692A>G | GRCh37 |
| NC_000003.10:g.130263382A>G | NCBI36 |
| NG_008715.1:g.6048A>G , LRG_477:g.6048A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307395.5:c.110A>G MANE Select | ENSP00000303942.4:p.Asp37Gly | |
| ENST00000307395.4:c.110A>G | ENSP00000303942.4:p.Asp37Gly | |
| NM_000174.4:c.110A>G , LRG_477t1:c.110A>G | NP_000165.1:p.Asp37Gly | |
| XM_005247374.3:c.110A>G | XP_005247431.1:p.Asp37Gly | |
| XM_011512701.1:c.110A>G | XP_011511003.1:p.Asp37Gly | |
| XM_011512702.1:c.110A>G | XP_011511004.1:p.Asp37Gly | |
| NM_000174.5:c.110A>G MANE Select | NP_000165.1:p.Asp37Gly |