Linked Data
ClinVar Variation Id:
305805
dbSNP Id:
rs570336313
ExAC:
11:67815215 C / A
gnomAD v2:
11-67815215-C-A
gnomAD v3:
11-68047748-C-A
gnomAD v4:
11-68047748-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68047748C>A , CM000673.2:g.68047748C>A | GRCh38 |
| NC_000011.9:g.67815215C>A , CM000673.1:g.67815215C>A | GRCh37 |
| NC_000011.8:g.67571791C>A | NCBI36 |
| NG_007878.1:g.13733C>A , LRG_115:g.13733C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000530449.2:n.32C>A | ||
| ENST00000698254.1:c.936C>A | ENSP00000513629.1:p.Thr312= | |
| ENST00000698255.1:c.1356C>A | ENSP00000513630.1:p.Thr452= | |
| ENST00000698256.1:c.873C>A | ||
| ENST00000698257.1:n.825C>A | ||
| ENST00000698258.1:n.465C>A | ||
| ENST00000698259.1:n.231C>A | ||
| ENST00000265686.8:c.1407C>A MANE Select | ENSP00000265686.3:p.Thr469= | |
| ENST00000265686.7:c.1407C>A | ENSP00000265686.3:p.Thr469= | |
| ENST00000525516.1:n.201C>A | ||
| ENST00000525724.5:n.719C>A | ||
| ENST00000528981.5:c.559C>A | ||
| ENST00000529364.1:c.818C>A | ||
| ENST00000532635.5:c.759C>A | ENSP00000434407.1:p.Thr253= | |
| ENST00000533005.5:n.443C>A | ||
| NM_006019.3:c.1407C>A | NP_006010.2:p.Thr469= | |
| NM_006053.3:c.759C>A | NP_006044.1:p.Thr253= | |
| XM_005273709.2:c.1407C>A | XP_005273766.1:p.Thr469= | |
| XM_011544726.1:c.1407C>A | XP_011543028.1:p.Thr469= | |
| XM_011544727.1:c.1407C>A | XP_011543029.1:p.Thr469= | |
| XM_011544728.1:c.1407C>A | XP_011543030.1:p.Thr469= | |
| XM_011544729.1:c.1423C>A | XP_011543031.1:p.Gln475Lys | |
| XR_949754.1:n.1411C>A | ||
| NM_001351059.1:c.513C>A | NP_001337988.1:p.Thr171= | |
| XM_024448320.1:c.1423C>A | XP_024304088.1:p.Gln475Lys | |
| XM_024448321.1:c.1423C>A | XP_024304089.1:p.Gln475Lys | |
| XM_024448322.1:c.1423C>A | XP_024304090.1:p.Gln475Lys | |
| XM_024448323.1:c.1423C>A | XP_024304091.1:p.Gln475Lys | |
| XM_024448324.1:c.1423C>A | XP_024304092.1:p.Gln475Lys | |
| XR_001747721.2:n.1531C>A | ||
| XR_001747722.1:n.1544C>A | ||
| XR_001747723.2:n.1544C>A | ||
| XR_002957115.1:n.1545C>A | ||
| NM_006019.4:c.1407C>A MANE Select | NP_006010.2:p.Thr469= | |
| NM_001351059.2:c.513C>A | NP_001337988.1:p.Thr171= | |
| NM_006053.4:c.759C>A | NP_006044.1:p.Thr253= |