Linked Data
dbSNP Id:
rs1484081807
ExAC:
1:152281114 C / G
gnomAD v2:
1-152281114-C-G
gnomAD v4:
1-152308638-C-G
MyVariant Identifiers:
chr1:g.152281114C>G (hg19)
chr1:g.152281114_152281115delinsGT (hg19)
chr1:g.152308638C>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.152308638C>G , CM000663.2:g.152308638C>G | GRCh38 |
| NC_000001.10:g.152281114C>G , CM000663.1:g.152281114C>G | GRCh37 |
| NC_000001.9:g.150547738C>G | NCBI36 |
| NG_016190.1:g.21566G>C , LRG_1028:g.21566G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368799.2:c.6248G>C MANE Select | ENSP00000357789.1:p.Ser2083Thr | |
| ENST00000368799.1:c.6248G>C | ENSP00000357789.1:p.Ser2083Thr | |
| NM_002016.1:c.6248G>C , LRG_1028t1:c.6248G>C | NP_002007.1:p.Ser2083Thr | |
| XM_011509329.1:c.6248G>C | XP_011507631.1:p.Ser2083Thr | |
| NM_002016.2:c.6248G>C MANE Select | NP_002007.1:p.Ser2083Thr |