Linked Data
ClinVar Variation Id:
2257462
ClinVar RCV Id:
RCV002782937
dbSNP Id:
rs759522776
gnomAD v3:
2-169259112-C-G
gnomAD v4:
2-169259112-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.169259112C>G , CM000664.2:g.169259112C>G | GRCh38 |
| NC_000002.11:g.170115622C>G , CM000664.1:g.170115622C>G | GRCh37 |
| NC_000002.10:g.169823868C>G | NCBI36 |
| NG_012634.1:g.108501G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649046.1:c.2426G>C MANE Select | ENSP00000496870.1:p.Ser809Thr | |
| ENST00000263816.7:c.2426G>C | ENSP00000263816.3:p.Ser809Thr | |
| ENST00000443831.1:c.2015G>C | ENSP00000409813.1:p.Ser672Thr | |
| NM_004525.2:c.2426G>C | NP_004516.2:p.Ser809Thr | |
| XM_011511183.1:c.2426G>C | XP_011509485.1:p.Ser809Thr | |
| XM_011511184.1:c.137G>C | XP_011509486.1:p.Ser46Thr | |
| XM_011511185.1:c.2426G>C | XP_011509487.1:p.Ser809Thr | |
| NM_004525.3:c.2426G>C MANE Select | NP_004516.2:p.Ser809Thr | |
| XM_011511183.3:c.2426G>C | XP_011509485.1:p.Ser809Thr | |
| XM_011511184.2:c.137G>C | XP_011509486.1:p.Ser46Thr |