Linked Data
ClinVar Variation Id:
46402
dbSNP Id:
rs56329646
ExAC:
5:90012312 C / T
gnomAD v2:
5-90012312-C-T
gnomAD v3:
5-90716495-C-T
gnomAD v4:
5-90716495-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90716495C>T , CM000667.2:g.90716495C>T | GRCh38 |
| NC_000005.9:g.90012312C>T , CM000667.1:g.90012312C>T | GRCh37 |
| NC_000005.8:g.90048068C>T | NCBI36 |
| NG_007083.1:g.162696C>T | |
| NG_007083.2:g.192152C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.9213C>T MANE Select | ENSP00000384582.2:p.Asp3071= | |
| ENST00000639431.1:c.265+40286C>T | ENSP00000491057.1:n.265+40286C>T | |
| ENST00000639473.1:n.4672C>T | ||
| ENST00000640012.1:c.3020C>T | ||
| ENST00000640374.1:n.2357C>T | ||
| ENST00000640779.1:c.3942C>T | ||
| ENST00000405460.6:c.9213C>T | ENSP00000384582.2:p.Asp3071= | |
| ENST00000509621.1:c.1910C>T | ||
| NM_032119.3:c.9213C>T | NP_115495.3:p.Asp3071= | |
| NR_003149.1:n.9226C>T | ||
| XM_011543675.1:c.9210C>T | XP_011541977.1:p.Asp3070= | |
| XM_011543676.1:c.9132C>T | XP_011541978.1:p.Asp3044= | |
| XM_011543677.1:c.6516C>T | XP_011541979.1:p.Asp2172= | |
| XM_011543678.1:c.9213C>T | XP_011541980.1:p.Asp3071= | |
| XM_011543679.1:c.9213C>T | XP_011541981.1:p.Asp3071= | |
| XR_948560.1:n.272-686G>A | ||
| NM_032119.4:c.9213C>T MANE Select | NP_115495.3:p.Asp3071= | |
| XM_017009963.2:c.9234C>T | XP_016865452.1:p.Asp3078= | |
| XM_017009964.2:c.9231C>T | XP_016865453.1:p.Asp3077= | |
| XM_017009965.1:c.9231C>T | XP_016865454.1:p.Asp3077= | |
| XM_017009966.2:c.9153C>T | XP_016865455.1:p.Asp3051= | |
| XM_017009967.1:c.9138C>T | XP_016865456.1:p.Asp3046= | |
| XM_017009968.2:c.9234C>T | XP_016865457.1:p.Asp3078= | |
| XM_017009969.2:c.9234C>T | XP_016865458.1:p.Asp3078= | |
| XM_017009970.2:c.9234C>T | XP_016865459.1:p.Asp3078= | |
| XM_017009971.2:c.9234C>T | XP_016865460.1:p.Asp3078= | |
| XM_017009972.1:c.2352C>T | XP_016865461.1:p.Asp784= | |
| XM_017009973.1:c.2331C>T | XP_016865462.1:p.Asp777= | |
| XM_017009974.2:c.9234C>T | XP_016865463.1:p.Asp3078= | |
| XR_001742802.1:n.2523-686G>A | ||
| NR_003149.2:n.9229C>T |