Linked Data
dbSNP Id:
rs548638151
ExAC:
5:35867518 T / G
gnomAD v2:
5-35867518-T-G
gnomAD v3:
5-35867416-T-G
gnomAD v4:
5-35867416-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.35867416T>G , CM000667.2:g.35867416T>G | GRCh38 |
| NC_000005.9:g.35867518T>G , CM000667.1:g.35867518T>G | GRCh37 |
| NC_000005.8:g.35903275T>G | NCBI36 |
| NG_009567.1:g.15528T>G , LRG_74:g.15528T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303115.8:c.332T>G MANE Select | ENSP00000306157.3:p.Val111Gly | |
| ENST00000303115.7:c.332T>G | ENSP00000306157.3:p.Val111Gly | |
| ENST00000506850.5:c.332T>G | ENSP00000421207.1:p.Val111Gly | |
| ENST00000511031.1:n.466T>G | ||
| ENST00000511982.1:c.332T>G | ENSP00000425309.1:p.Val111Gly | |
| ENST00000514217.5:c.332T>G | ENSP00000427688.1:p.Val111Gly | |
| NM_002185.3:c.332T>G | NP_002176.2:p.Val111Gly | |
| NR_120485.1:n.435T>G | ||
| XM_005248299.2:c.332T>G | XP_005248356.1:p.Val111Gly | |
| XM_005248300.1:c.332T>G | XP_005248357.1:p.Val111Gly | |
| XM_011514037.1:c.332T>G | XP_011512339.1:p.Val111Gly | |
| NM_002185.4:c.332T>G | NP_002176.2:p.Val111Gly | |
| NR_120485.2:n.461T>G | ||
| XM_005248299.4:c.332T>G | XP_005248356.1:p.Val111Gly | |
| NM_002185.5:c.332T>G MANE Select | NP_002176.2:p.Val111Gly | |
| NR_120485.3:n.419T>G |