Linked Data
ClinVar Variation Id:
2789748
ClinVar RCV Id:
RCV003667069
dbSNP Id:
rs759425009
ExAC:
5:89923216 G / A
gnomAD v2:
5-89923216-G-A
gnomAD v3:
5-90627399-G-A
gnomAD v4:
5-90627399-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90627399G>A , CM000667.2:g.90627399G>A | GRCh38 |
| NC_000005.9:g.89923216G>A , CM000667.1:g.89923216G>A | GRCh37 |
| NC_000005.8:g.89958972G>A | NCBI36 |
| NG_007083.1:g.73600G>A | |
| NG_007083.2:g.103056G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.861G>A MANE Select | ENSP00000384582.2:p.Lys287= | |
| ENST00000640083.1:n.566G>A | ||
| ENST00000640109.1:n.957G>A | ||
| ENST00000640281.1:n.920G>A | ||
| ENST00000405460.6:c.861G>A | ENSP00000384582.2:p.Lys287= | |
| NM_032119.3:c.861G>A | NP_115495.3:p.Lys287= | |
| NR_003149.1:n.957G>A | ||
| XM_011543675.1:c.861G>A | XP_011541977.1:p.Lys287= | |
| XM_011543676.1:c.861G>A | XP_011541978.1:p.Lys287= | |
| XM_011543678.1:c.861G>A | XP_011541980.1:p.Lys287= | |
| XM_011543679.1:c.861G>A | XP_011541981.1:p.Lys287= | |
| NM_032119.4:c.861G>A MANE Select | NP_115495.3:p.Lys287= | |
| XM_017009963.2:c.861G>A | XP_016865452.1:p.Lys287= | |
| XM_017009964.2:c.861G>A | XP_016865453.1:p.Lys287= | |
| XM_017009965.1:c.858G>A | XP_016865454.1:p.Lys286= | |
| XM_017009966.2:c.861G>A | XP_016865455.1:p.Lys287= | |
| XM_017009967.1:c.765G>A | XP_016865456.1:p.Lys255= | |
| XM_017009968.2:c.861G>A | XP_016865457.1:p.Lys287= | |
| XM_017009969.2:c.861G>A | XP_016865458.1:p.Lys287= | |
| XM_017009970.2:c.861G>A | XP_016865459.1:p.Lys287= | |
| XM_017009971.2:c.861G>A | XP_016865460.1:p.Lys287= | |
| XM_017009974.2:c.861G>A | XP_016865463.1:p.Lys287= | |
| NR_003149.2:n.960G>A |