Linked Data
ClinVar Variation Id:
500463
dbSNP Id:
rs1319856628
gnomAD v3:
2-43877834-T-C
gnomAD v4:
2-43877834-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43877834T>C , CM000664.2:g.43877834T>C | GRCh38 |
| NC_000002.11:g.44104973T>C , CM000664.1:g.44104973T>C | GRCh37 |
| NC_000002.10:g.43958477T>C | NCBI36 |
| NG_008884.1:g.43871T>C | |
| NG_008884.2:g.50893T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272286.4:c.1943T>C MANE Select | ENSP00000272286.2:p.Ile648Thr | |
| ENST00000272286.2:c.1943T>C | ENSP00000272286.2:p.Ile648Thr | |
| NM_022437.2:c.1943T>C | NP_071882.1:p.Ile648Thr | |
| XM_005264483.2:c.1940T>C | XP_005264540.1:p.Ile647Thr | |
| XM_011533029.1:c.1955T>C | XP_011531331.1:p.Ile652Thr | |
| XM_011533030.1:c.1952T>C | XP_011531332.1:p.Ile651Thr | |
| XM_011533031.1:c.1727T>C | XP_011531333.1:p.Ile576Thr | |
| XR_939707.1:n.2445T>C | ||
| NM_001357321.1:c.1940T>C | NP_001344250.1:p.Ile647Thr | |
| XM_011533029.2:c.1955T>C | XP_011531331.1:p.Ile652Thr | |
| XM_011533030.2:c.1952T>C | XP_011531332.1:p.Ile651Thr | |
| XR_001738891.1:n.2459T>C | ||
| XR_939707.2:n.2459T>C | ||
| NM_022437.3:c.1943T>C MANE Select | NP_071882.1:p.Ile648Thr | |
| NM_001357321.2:c.1940T>C | NP_001344250.1:p.Ile647Thr |