Linked Data
ClinVar Variation Id:
235702
dbSNP Id:
rs140963213
ExAC:
11:67814983 G / A
gnomAD v2:
11-67814983-G-A
gnomAD v3:
11-68047516-G-A
gnomAD v4:
11-68047516-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68047516G>A , CM000673.2:g.68047516G>A | GRCh38 |
| NC_000011.9:g.67814983G>A , CM000673.1:g.67814983G>A | GRCh37 |
| NC_000011.8:g.67571559G>A | NCBI36 |
| NG_007878.1:g.13501G>A , LRG_115:g.13501G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698254.1:c.778G>A | ENSP00000513629.1:p.Ala260Thr | |
| ENST00000698255.1:c.1198G>A | ENSP00000513630.1:p.Ala400Thr | |
| ENST00000698256.1:c.715G>A | ||
| ENST00000698257.1:n.667G>A | ||
| ENST00000698258.1:n.233G>A | ||
| ENST00000698259.1:n.73G>A | ||
| ENST00000265686.8:c.1249G>A MANE Select | ENSP00000265686.3:p.Ala417Thr | |
| ENST00000265686.7:c.1249G>A | ENSP00000265686.3:p.Ala417Thr | |
| ENST00000525516.1:n.43G>A | ||
| ENST00000525724.5:n.561G>A | ||
| ENST00000528981.5:c.401G>A | ||
| ENST00000529364.1:c.660G>A | ||
| ENST00000532635.5:c.601G>A | ENSP00000434407.1:p.Ala201Thr | |
| ENST00000533005.5:n.285G>A | ||
| NM_006019.3:c.1249G>A | NP_006010.2:p.Ala417Thr | |
| NM_006053.3:c.601G>A | NP_006044.1:p.Ala201Thr | |
| XM_005273709.2:c.1249G>A | XP_005273766.1:p.Ala417Thr | |
| XM_011544726.1:c.1249G>A | XP_011543028.1:p.Ala417Thr | |
| XM_011544727.1:c.1249G>A | XP_011543029.1:p.Ala417Thr | |
| XM_011544728.1:c.1249G>A | XP_011543030.1:p.Ala417Thr | |
| XM_011544729.1:c.1265G>A | XP_011543031.1:p.Arg422His | |
| XR_949754.1:n.1253G>A | ||
| NM_001351059.1:c.355G>A | NP_001337988.1:p.Ala119Thr | |
| XM_024448320.1:c.1265G>A | XP_024304088.1:p.Arg422His | |
| XM_024448321.1:c.1265G>A | XP_024304089.1:p.Arg422His | |
| XM_024448322.1:c.1265G>A | XP_024304090.1:p.Arg422His | |
| XM_024448323.1:c.1265G>A | XP_024304091.1:p.Arg422His | |
| XM_024448324.1:c.1265G>A | XP_024304092.1:p.Arg422His | |
| XR_001747721.2:n.1373G>A | ||
| XR_001747722.1:n.1386G>A | ||
| XR_001747723.2:n.1386G>A | ||
| XR_002957115.1:n.1387G>A | ||
| NM_006019.4:c.1249G>A MANE Select | NP_006010.2:p.Ala417Thr | |
| NM_001351059.2:c.355G>A | NP_001337988.1:p.Ala119Thr | |
| NM_006053.4:c.601G>A | NP_006044.1:p.Ala201Thr |