Linked Data
ClinVar Variation Id:
2197801
ClinVar RCV Id:
RCV002637978
RCV003445212
RCV003445213
RCV003445209
RCV003445210
RCV003445211
RCV003388158
dbSNP Id:
rs747658630
ExAC:
1:43393470 G / A
gnomAD v2:
1-43393470-G-A
gnomAD v3:
1-42927799-G-A
gnomAD v4:
1-42927799-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42927799G>A , CM000663.2:g.42927799G>A | GRCh38 |
| NC_000001.10:g.43393470G>A , CM000663.1:g.43393470G>A | GRCh37 |
| NC_000001.9:g.43166057G>A | NCBI36 |
| NG_008232.1:g.36378C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426263.10:c.1084C>T MANE Select | ENSP00000416293.2:p.Pro362Ser | |
| ENST00000674545.1:n.1701C>T | ||
| ENST00000674765.1:c.1030-942C>T | ENSP00000501811.1:n.1030-942C>T | |
| ENST00000675112.1:n.1385C>T | ||
| ENST00000676254.1:n.1533C>T | ||
| ENST00000426263.7:c.1084C>T | ENSP00000416293.2:p.Pro362Ser | |
| ENST00000475162.3:c.416-821C>T | ||
| ENST00000630287.2:c.*399C>T | ENSP00000486694.1:n.*399C>T | |
| NM_006516.2:c.1084C>T | NP_006507.2:p.Pro362Ser | |
| NM_006516.3:c.1084C>T | NP_006507.2:p.Pro362Ser | |
| NM_006516.4:c.1084C>T MANE Select | NP_006507.2:p.Pro362Ser |