Linked Data
ClinVar Variation Id:
5215
ClinVar RCV Id:
RCV000005525
dbSNP Id:
rs28939079
ExAC:
6:41127611 T / C
gnomAD v2:
6-41127611-T-C
gnomAD v4:
6-41159873-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.41159873T>C , CM000668.2:g.41159873T>C | GRCh38 |
| NC_000006.11:g.41127611T>C , CM000668.1:g.41127611T>C | GRCh37 |
| NC_000006.10:g.41235589T>C | NCBI36 |
| NG_011561.1:g.8312A>G , LRG_631:g.8312A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373113.8:c.401A>G MANE Select | ENSP00000362205.3:p.Asp134Gly | |
| ENST00000338469.3:c.401A>G | ENSP00000342651.4:p.Asp134Gly | |
| ENST00000373113.7:c.401A>G | ENSP00000362205.3:p.Asp134Gly | |
| ENST00000373122.8:c.401A>G | ENSP00000362214.4:p.Asp134Gly | |
| NM_001271821.1:c.401A>G | NP_001258750.1:p.Asp134Gly | |
| NM_018965.3:c.401A>G , LRG_631t1:c.401A>G | NP_061838.1:p.Asp134Gly | |
| XM_006715116.2:c.140A>G | XP_006715179.1:p.Asp47Gly | |
| XR_926795.1:n.222+4310T>C | ||
| XR_926796.1:n.214+4310T>C | ||
| XR_926797.1:n.188+4310T>C | ||
| XR_926795.2:n.517+4310T>C | ||
| XR_926797.2:n.232+4310T>C | ||
| NM_001271821.2:c.401A>G | NP_001258750.1:p.Asp134Gly | |
| NM_018965.4:c.401A>G MANE Select | NP_061838.1:p.Asp134Gly |