Linked Data
ClinVar Variation Id:
138098
dbSNP Id:
rs11540216
ExAC:
5:145506100 G / A
gnomAD v2:
5-145506100-G-A
gnomAD v3:
5-146126537-G-A
gnomAD v4:
5-146126537-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.146126537G>A , CM000667.2:g.146126537G>A | GRCh38 |
| NC_000005.9:g.145506100G>A , CM000667.1:g.145506100G>A | GRCh37 |
| NC_000005.8:g.145486293G>A | NCBI36 |
| NG_042294.1:g.61195C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394434.7:c.2889C>T MANE Select | ENSP00000377954.2:p.Asn963= | |
| ENST00000504323.6:n.3319C>T | ||
| ENST00000506231.6:n.5771C>T | ||
| ENST00000674158.1:c.2508C>T | ENSP00000501474.1:p.Asn836= | |
| ENST00000674170.1:c.*1327C>T | ENSP00000501381.1:n.*1327C>T | |
| ENST00000674174.1:c.2727C>T | ENSP00000501434.1:p.Asn909= | |
| ENST00000674181.1:c.1136C>T | ||
| ENST00000674191.1:c.2433C>T | ENSP00000501478.1:p.Asn811= | |
| ENST00000674218.1:n.5676C>T | ||
| ENST00000674270.1:c.2751C>T | ENSP00000501365.1:p.Asn917= | |
| ENST00000674277.1:c.2724C>T | ENSP00000501510.1:p.Asn908= | |
| ENST00000674290.1:c.2853C>T | ENSP00000501435.1:p.Asn951= | |
| ENST00000674309.1:c.*245C>T | ENSP00000501400.1:n.*245C>T | |
| ENST00000674310.1:c.2889C>T | ENSP00000501486.1:p.Asn963= | |
| ENST00000674383.1:n.5542C>T | ||
| ENST00000674398.1:c.2886C>T | ENSP00000501476.1:p.Asn962= | |
| ENST00000674447.1:c.2808C>T | ENSP00000501376.1:p.Asn936= | |
| ENST00000674467.1:c.*811C>T | ENSP00000501351.1:n.*811C>T | |
| ENST00000674471.1:n.3157C>T | ||
| ENST00000674479.1:n.3926C>T | ||
| ENST00000274562.13:c.816C>T | ENSP00000274562.10:p.Asn272= | |
| ENST00000394434.6:c.2889C>T | ENSP00000377954.2:p.Asn963= | |
| ENST00000506231.5:n.2870C>T | ||
| ENST00000508709.1:n.423C>T | ||
| ENST00000510191.5:c.2727C>T | ENSP00000426005.1:p.Asn909= | |
| NM_020117.9:c.2889C>T | NP_064502.9:p.Asn963= | |
| XM_011537655.1:c.2751C>T | XP_011535957.1:p.Asn917= | |
| XM_011537656.1:c.2727C>T | XP_011535958.1:p.Asn909= | |
| XM_011537657.1:c.2676C>T | XP_011535959.1:p.Asn892= | |
| NM_001317964.1:c.2751C>T | NP_001304893.1:p.Asn917= | |
| NM_001317965.1:c.2727C>T | NP_001304894.1:p.Asn909= | |
| NM_016460.3:c.2808C>T | NP_057544.2:p.Asn936= | |
| NM_020117.10:c.2889C>T | NP_064502.9:p.Asn963= | |
| XM_011537656.3:c.2727C>T | XP_011535958.1:p.Asn909= | |
| NM_020117.11:c.2889C>T MANE Select | NP_064502.9:p.Asn963= | |
| NM_001317964.2:c.2751C>T | NP_001304893.1:p.Asn917= | |
| NM_001317965.2:c.2727C>T | NP_001304894.1:p.Asn909= | |
| NM_016460.4:c.2808C>T | NP_057544.2:p.Asn936= |