Linked Data
ClinVar Variation Id:
755081
ClinVar RCV Id:
RCV000932456
dbSNP Id:
rs754235952
ExAC:
11:67815394 C / T
gnomAD v2:
11-67815394-C-T
gnomAD v3:
11-68047927-C-T
gnomAD v4:
11-68047927-C-T
COSMIC:
COSM5970336
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68047927C>T , CM000673.2:g.68047927C>T | GRCh38 |
| NC_000011.9:g.67815394C>T , CM000673.1:g.67815394C>T | GRCh37 |
| NC_000011.8:g.67571970C>T | NCBI36 |
| NG_007878.1:g.13912C>T , LRG_115:g.13912C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000530449.2:n.134C>T | ||
| ENST00000698254.1:c.1038C>T | ENSP00000513629.1:p.Asn346= | |
| ENST00000698255.1:c.1458C>T | ENSP00000513630.1:p.Asn486= | |
| ENST00000698256.1:c.975C>T | ||
| ENST00000698257.1:n.927C>T | ||
| ENST00000698258.1:n.644C>T | ||
| ENST00000698259.1:n.410C>T | ||
| ENST00000265686.8:c.1509C>T MANE Select | ENSP00000265686.3:p.Asn503= | |
| ENST00000265686.7:c.1509C>T | ENSP00000265686.3:p.Asn503= | |
| ENST00000525516.1:n.303C>T | ||
| ENST00000525724.5:n.821C>T | ||
| ENST00000528981.5:c.661C>T | ||
| ENST00000532635.5:c.861C>T | ENSP00000434407.1:p.Asn287= | |
| ENST00000533005.5:n.622C>T | ||
| NM_006019.3:c.1509C>T | NP_006010.2:p.Asn503= | |
| NM_006053.3:c.861C>T | NP_006044.1:p.Asn287= | |
| XM_005273709.2:c.1509C>T | XP_005273766.1:p.Asn503= | |
| XM_011544726.1:c.1509C>T | XP_011543028.1:p.Asn503= | |
| XM_011544727.1:c.1509C>T | XP_011543029.1:p.Asn503= | |
| XM_011544728.1:c.1509C>T | XP_011543030.1:p.Asn503= | |
| XR_949754.1:n.1513C>T | ||
| NM_001351059.1:c.615C>T | NP_001337988.1:p.Asn205= | |
| XM_024448320.1:c.1602C>T | XP_024304088.1:p.Asn534= | |
| XM_024448321.1:c.1602C>T | XP_024304089.1:p.Asn534= | |
| XM_024448322.1:c.1602C>T | XP_024304090.1:p.Asn534= | |
| XM_024448323.1:c.1602C>T | XP_024304091.1:p.Asn534= | |
| XM_024448324.1:c.1602C>T | XP_024304092.1:p.Asn534= | |
| XR_001747721.2:n.1633C>T | ||
| XR_001747722.1:n.1646C>T | ||
| XR_001747723.2:n.1646C>T | ||
| XR_002957115.1:n.1724C>T | ||
| NM_006019.4:c.1509C>T MANE Select | NP_006010.2:p.Asn503= | |
| NM_001351059.2:c.615C>T | NP_001337988.1:p.Asn205= | |
| NM_006053.4:c.861C>T | NP_006044.1:p.Asn287= |