Linked Data
ClinVar Variation Id:
239827
dbSNP Id:
rs56247462
ExAC:
2:29443617 C / G
gnomAD v2:
2-29443617-C-G
gnomAD v3:
2-29220751-C-G
gnomAD v4:
2-29220751-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29220751C>G , CM000664.2:g.29220751C>G | GRCh38 |
| NC_000002.11:g.29443617C>G , CM000664.1:g.29443617C>G | GRCh37 |
| NC_000002.10:g.29297121C>G | NCBI36 |
| NG_009445.1:g.705816G>C , LRG_488:g.705816G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.3600G>C MANE Select | ENSP00000373700.3:p.Ala1200= | |
| ENST00000431873.6:c.827G>C | ||
| ENST00000638605.1:n.477G>C | ||
| ENST00000642122.1:c.396G>C | ENSP00000493203.1:p.Ala132= | |
| ENST00000389048.7:c.3600G>C | ENSP00000373700.3:p.Ala1200= | |
| ENST00000431873.5:c.480G>C | ENSP00000414027.2:p.Ala160= | |
| ENST00000618119.4:c.2469G>C | ENSP00000482733.1:p.Ala823= | |
| NM_004304.4:c.3600G>C | NP_004295.2:p.Ala1200= | |
| NM_001353765.1:c.396G>C | NP_001340694.1:p.Ala132= | |
| XM_024452778.1:c.753G>C | XP_024308546.1:p.Ala251= | |
| XM_024452779.1:c.396G>C | XP_024308547.1:p.Ala132= | |
| NM_004304.5:c.3600G>C MANE Select | NP_004295.2:p.Ala1200= | |
| NM_001353765.2:c.396G>C | NP_001340694.1:p.Ala132= |