Linked Data
ClinVar Variation Id:
351994
dbSNP Id:
rs145608358
ExAC:
5:149310619 A / G
gnomAD v2:
5-149310619-A-G
gnomAD v3:
5-149931056-A-G
gnomAD v4:
5-149931056-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149931056A>G , CM000667.2:g.149931056A>G | GRCh38 |
| NC_000005.9:g.149310619A>G , CM000667.1:g.149310619A>G | GRCh37 |
| NC_000005.8:g.149290812A>G | NCBI36 |
| NG_009102.1:g.18738T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255266.10:c.830T>C MANE Select | ENSP00000255266.5:p.Val277Ala | |
| ENST00000255266.9:c.830T>C | ENSP00000255266.5:p.Val277Ala | |
| ENST00000508173.5:n.950T>C | ||
| ENST00000613228.1:c.587T>C | ENSP00000478060.1:p.Val196Ala | |
| ENST00000617647.4:c.587T>C | ENSP00000482774.1:p.Val196Ala | |
| NM_000440.2:c.830T>C | NP_000431.2:p.Val277Ala | |
| XM_011537648.1:c.830T>C | XP_011535950.1:p.Val277Ala | |
| XM_011537649.1:c.284T>C | XP_011535951.1:p.Val95Ala | |
| XM_017009572.2:c.587T>C | XP_016865061.1:p.Val196Ala | |
| NM_000440.3:c.830T>C MANE Select | NP_000431.2:p.Val277Ala |