Linked Data
ClinVar Variation Id:
1587003
ClinVar RCV Id:
RCV002100831
dbSNP Id:
rs765666170
ExAC:
3:128780681 G / A
gnomAD v2:
3-128780681-G-A
gnomAD v3:
3-129061838-G-A
gnomAD v4:
3-129061838-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129061838G>A , CM000665.2:g.129061838G>A | GRCh38 |
| NC_000003.11:g.128780681G>A , CM000665.1:g.128780681G>A | GRCh37 |
| NC_000003.10:g.130263371G>A | NCBI36 |
| NG_008715.1:g.6037G>A , LRG_477:g.6037G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307395.5:c.99G>A MANE Select | ENSP00000303942.4:p.Gly33= | |
| ENST00000307395.4:c.99G>A | ENSP00000303942.4:p.Gly33= | |
| NM_000174.4:c.99G>A , LRG_477t1:c.99G>A | NP_000165.1:p.Gly33= | |
| XM_005247374.3:c.99G>A | XP_005247431.1:p.Gly33= | |
| XM_011512701.1:c.99G>A | XP_011511003.1:p.Gly33= | |
| XM_011512702.1:c.99G>A | XP_011511004.1:p.Gly33= | |
| NM_000174.5:c.99G>A MANE Select | NP_000165.1:p.Gly33= |