Linked Data
ClinVar Variation Id:
7664
ClinVar RCV Id:
RCV000008103
dbSNP Id:
rs121909174
ExAC:
19:17992770 A / C
gnomAD v2:
19-17992770-A-C
gnomAD v4:
19-17881961-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17881961A>C , CM000681.2:g.17881961A>C | GRCh38 |
| NC_000019.9:g.17992770A>C , CM000681.1:g.17992770A>C | GRCh37 |
| NC_000019.8:g.17853770A>C | NCBI36 |
| NG_012930.1:g.14989A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000222248.4:c.1060A>C MANE Select | ENSP00000222248.2:p.Thr354Pro | |
| ENST00000222248.3:c.1060A>C | ENSP00000222248.2:p.Thr354Pro | |
| NM_000453.2:c.1060A>C | NP_000444.1:p.Thr354Pro | |
| XM_011528192.1:c.1093A>C | XP_011526494.1:p.Thr365Pro | |
| XM_011528193.1:c.826A>C | XP_011526495.1:p.Thr276Pro | |
| XM_011528194.1:c.727A>C | XP_011526496.1:p.Thr243Pro | |
| XM_011528192.2:c.1093A>C | XP_011526494.1:p.Thr365Pro | |
| XM_011528193.3:c.826A>C | XP_011526495.1:p.Thr276Pro | |
| XM_011528194.3:c.727A>C | XP_011526496.1:p.Thr243Pro | |
| XM_017027158.1:c.793A>C | XP_016882647.1:p.Thr265Pro | |
| NM_000453.3:c.1060A>C MANE Select | NP_000444.1:p.Thr354Pro |