Linked Data
ClinVar Variation Id:
3165275
ClinVar RCV Id:
RCV004464126
dbSNP Id:
rs949806130
gnomAD v3:
2-27205431-A-G
gnomAD v4:
2-27205431-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27205431A>G , CM000664.2:g.27205431A>G | GRCh38 |
| NC_000002.11:g.27428299A>G , CM000664.1:g.27428299A>G | GRCh37 |
| NC_000002.10:g.27281803A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310574.8:c.653T>C MANE Select | ENSP00000310208.3:p.Ile218Thr | |
| ENST00000310574.7:c.653T>C | ENSP00000310208.3:p.Ile218Thr | |
| ENST00000408041.5:c.653T>C | ENSP00000384853.1:p.Ile218Thr | |
| ENST00000445802.5:c.*139T>C | ENSP00000411361.1:n.*139T>C | |
| ENST00000464538.1:n.368T>C | ||
| ENST00000488743.6:n.987T>C | ||
| NM_021095.2:c.653T>C | NP_066918.2:p.Ile218Thr | |
| NR_028323.1:n.1148T>C | ||
| XM_006712128.1:c.653T>C | XP_006712191.1:p.Ile218Thr | |
| XM_006712129.1:c.653T>C | XP_006712192.1:p.Ile218Thr | |
| XM_006712130.1:c.653T>C | XP_006712193.1:p.Ile218Thr | |
| XM_006712131.2:c.653T>C | XP_006712194.1:p.Ile218Thr | |
| XM_011533144.1:c.653T>C | XP_011531446.1:p.Ile218Thr | |
| XM_011533145.1:c.653T>C | XP_011531447.1:p.Ile218Thr | |
| XM_011533146.1:c.46T>C | XP_011531448.1:p.Ser16Pro | |
| XR_939737.1:n.1148T>C | ||
| XM_006712128.2:c.653T>C | XP_006712191.1:p.Ile218Thr | |
| XM_011533146.3:c.46T>C | XP_011531448.1:p.Ser16Pro | |
| XM_017005216.1:c.26T>C | XP_016860705.1:p.Ile9Thr | |
| XM_024453206.1:c.653T>C | XP_024308974.1:p.Ile218Thr | |
| XM_024453207.1:c.653T>C | XP_024308975.1:p.Ile218Thr | |
| XR_001739022.1:n.949T>C | ||
| XR_001739023.1:n.879T>C | ||
| XR_001739024.2:n.946T>C | ||
| XR_001739025.2:n.947T>C | ||
| XR_002959356.1:n.1183T>C | ||
| XR_002959357.1:n.1118T>C | ||
| XR_002959358.1:n.1118T>C | ||
| NM_021095.3:c.653T>C | NP_066918.2:p.Ile218Thr | |
| NM_021095.4:c.653T>C MANE Select | NP_066918.2:p.Ile218Thr | |
| NR_028323.2:n.1109T>C |