Linked Data
ClinVar Variation Id:
305794
dbSNP Id:
rs772355396
ExAC:
11:67811781 C / T
gnomAD v2:
11-67811781-C-T
gnomAD v3:
11-68044314-C-T
gnomAD v4:
11-68044314-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68044314C>T , CM000673.2:g.68044314C>T | GRCh38 |
| NC_000011.9:g.67811781C>T , CM000673.1:g.67811781C>T | GRCh37 |
| NC_000011.8:g.67568357C>T | NCBI36 |
| NG_007878.1:g.10299C>T , LRG_115:g.10299C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698254.1:c.519C>T | ENSP00000513629.1:p.Pro173= | |
| ENST00000698255.1:c.939C>T | ENSP00000513630.1:p.Pro313= | |
| ENST00000698256.1:c.456C>T | ||
| ENST00000698257.1:n.408C>T | ||
| ENST00000265686.8:c.990C>T MANE Select | ENSP00000265686.3:p.Pro330= | |
| ENST00000265686.7:c.990C>T | ENSP00000265686.3:p.Pro330= | |
| ENST00000525724.5:n.302C>T | ||
| ENST00000528981.5:c.80C>T | ||
| ENST00000529364.1:c.490C>T | ||
| ENST00000532635.5:c.342C>T | ENSP00000434407.1:p.Pro114= | |
| ENST00000533005.5:n.26C>T | ||
| NM_006019.3:c.990C>T | NP_006010.2:p.Pro330= | |
| NM_006053.3:c.342C>T | NP_006044.1:p.Pro114= | |
| XM_005273709.2:c.990C>T | XP_005273766.1:p.Pro330= | |
| XM_011544726.1:c.990C>T | XP_011543028.1:p.Pro330= | |
| XM_011544727.1:c.990C>T | XP_011543029.1:p.Pro330= | |
| XM_011544728.1:c.990C>T | XP_011543030.1:p.Pro330= | |
| XM_011544729.1:c.1006C>T | XP_011543031.1:p.Arg336Cys | |
| XR_949754.1:n.994C>T | ||
| NM_001351059.1:c.96C>T | NP_001337988.1:p.Pro32= | |
| XM_024448320.1:c.1006C>T | XP_024304088.1:p.Arg336Cys | |
| XM_024448321.1:c.1006C>T | XP_024304089.1:p.Arg336Cys | |
| XM_024448322.1:c.1006C>T | XP_024304090.1:p.Arg336Cys | |
| XM_024448323.1:c.1006C>T | XP_024304091.1:p.Arg336Cys | |
| XM_024448324.1:c.1006C>T | XP_024304092.1:p.Arg336Cys | |
| XR_001747721.2:n.1114C>T | ||
| XR_001747722.1:n.1127C>T | ||
| XR_001747723.2:n.1127C>T | ||
| XR_002957115.1:n.1128C>T | ||
| NM_006019.4:c.990C>T MANE Select | NP_006010.2:p.Pro330= | |
| NM_001351059.2:c.96C>T | NP_001337988.1:p.Pro32= | |
| NM_006053.4:c.342C>T | NP_006044.1:p.Pro114= |