Linked Data
ClinVar Variation Id:
305802
dbSNP Id:
rs138527421
ExAC:
11:67815012 A / G
gnomAD v2:
11-67815012-A-G
gnomAD v3:
11-68047545-A-G
gnomAD v4:
11-68047545-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68047545A>G , CM000673.2:g.68047545A>G | GRCh38 |
| NC_000011.9:g.67815012A>G , CM000673.1:g.67815012A>G | GRCh37 |
| NC_000011.8:g.67571588A>G | NCBI36 |
| NG_007878.1:g.13530A>G , LRG_115:g.13530A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698254.1:c.807A>G | ENSP00000513629.1:p.Arg269= | |
| ENST00000698255.1:c.1227A>G | ENSP00000513630.1:p.Arg409= | |
| ENST00000698256.1:c.744A>G | ||
| ENST00000698257.1:n.696A>G | ||
| ENST00000698258.1:n.262A>G | ||
| ENST00000698259.1:n.102A>G | ||
| ENST00000265686.8:c.1278A>G MANE Select | ENSP00000265686.3:p.Arg426= | |
| ENST00000265686.7:c.1278A>G | ENSP00000265686.3:p.Arg426= | |
| ENST00000525516.1:n.72A>G | ||
| ENST00000525724.5:n.590A>G | ||
| ENST00000528981.5:c.430A>G | ||
| ENST00000529364.1:c.689A>G | ||
| ENST00000532635.5:c.630A>G | ENSP00000434407.1:p.Arg210= | |
| ENST00000533005.5:n.314A>G | ||
| NM_006019.3:c.1278A>G | NP_006010.2:p.Arg426= | |
| NM_006053.3:c.630A>G | NP_006044.1:p.Arg210= | |
| XM_005273709.2:c.1278A>G | XP_005273766.1:p.Arg426= | |
| XM_011544726.1:c.1278A>G | XP_011543028.1:p.Arg426= | |
| XM_011544727.1:c.1278A>G | XP_011543029.1:p.Arg426= | |
| XM_011544728.1:c.1278A>G | XP_011543030.1:p.Arg426= | |
| XM_011544729.1:c.1294A>G | XP_011543031.1:p.Thr432Ala | |
| XR_949754.1:n.1282A>G | ||
| NM_001351059.1:c.384A>G | NP_001337988.1:p.Arg128= | |
| XM_024448320.1:c.1294A>G | XP_024304088.1:p.Thr432Ala | |
| XM_024448321.1:c.1294A>G | XP_024304089.1:p.Thr432Ala | |
| XM_024448322.1:c.1294A>G | XP_024304090.1:p.Thr432Ala | |
| XM_024448323.1:c.1294A>G | XP_024304091.1:p.Thr432Ala | |
| XM_024448324.1:c.1294A>G | XP_024304092.1:p.Thr432Ala | |
| XR_001747721.2:n.1402A>G | ||
| XR_001747722.1:n.1415A>G | ||
| XR_001747723.2:n.1415A>G | ||
| XR_002957115.1:n.1416A>G | ||
| NM_006019.4:c.1278A>G MANE Select | NP_006010.2:p.Arg426= | |
| NM_001351059.2:c.384A>G | NP_001337988.1:p.Arg128= | |
| NM_006053.4:c.630A>G | NP_006044.1:p.Arg210= |