Linked Data
ClinVar Variation Id:
504590
dbSNP Id:
rs201800819
ExAC:
5:90449167 G / A
gnomAD v2:
5-90449167-G-A
gnomAD v3:
5-91153350-G-A
gnomAD v4:
5-91153350-G-A
COSMIC:
COSM3141009
PubMed:
PMID:23260136
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.91153350G>A , CM000667.2:g.91153350G>A | GRCh38 |
| NC_000005.9:g.90449167G>A , CM000667.1:g.90449167G>A | GRCh37 |
| NC_000005.8:g.90484923G>A | NCBI36 |
| NG_007083.1:g.599551G>A | |
| NG_007083.2:g.629007G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.18754G>A MANE Select | ENSP00000384582.2:p.Asp6252Asn | |
| ENST00000425867.3:c.7708G>A | ENSP00000392618.3:p.Asp2570Asn | |
| ENST00000638510.1:n.6021G>A | ||
| ENST00000638990.1:c.1966G>A | ||
| ENST00000639212.1:n.674G>A | ||
| ENST00000639530.1:n.622G>A | ||
| ENST00000639821.1:c.517-10432G>A | ENSP00000492216.1:n.517-10432G>A | |
| ENST00000640256.1:n.430G>A | ||
| ENST00000640407.1:c.5203G>A | ENSP00000491425.1:n.5203G>A | |
| ENST00000640815.1:c.838G>A | ENSP00000491767.1:p.Asp280Asn | |
| ENST00000405460.6:c.18754G>A | ENSP00000384582.2:p.Asp6252Asn | |
| ENST00000425867.2:c.5737G>A | ENSP00000392618.2:p.Asp1913Asn | |
| NM_032119.3:c.18754G>A | NP_115495.3:p.Asp6252Asn | |
| NR_003149.1:n.18767G>A | ||
| XM_011543675.1:c.18751G>A | XP_011541977.1:p.Asp6251Asn | |
| XM_011543676.1:c.18673G>A | XP_011541978.1:p.Asp6225Asn | |
| XM_011543677.1:c.16057G>A | XP_011541979.1:p.Asp5353Asn | |
| NM_032119.4:c.18754G>A MANE Select | NP_115495.3:p.Asp6252Asn | |
| XM_017009963.2:c.18775G>A | XP_016865452.1:p.Asp6259Asn | |
| XM_017009964.2:c.18772G>A | XP_016865453.1:p.Asp6258Asn | |
| XM_017009965.1:c.18772G>A | XP_016865454.1:p.Asp6258Asn | |
| XM_017009966.2:c.18694G>A | XP_016865455.1:p.Asp6232Asn | |
| XM_017009967.1:c.18679G>A | XP_016865456.1:p.Asp6227Asn | |
| XM_017009968.2:c.18595G>A | XP_016865457.1:p.Asp6199Asn | |
| XM_017009969.2:c.18454-10432G>A | XP_016865458.1:n.18454-10432G>A | |
| XM_017009972.1:c.11893G>A | XP_016865461.1:p.Asp3965Asn | |
| XM_017009973.1:c.11872G>A | XP_016865462.1:p.Asp3958Asn | |
| XR_001742795.1:n.225-1162C>T | ||
| XR_001742796.1:n.225-17356C>T | ||
| NR_003149.2:n.18770G>A |