Linked Data
ClinVar Variation Id:
1516855
ClinVar RCV Id:
RCV002040952
dbSNP Id:
rs112017807
ExAC:
2:170115558 C / T
gnomAD v2:
2-170115558-C-T
gnomAD v3:
2-169259048-C-T
gnomAD v4:
2-169259048-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.169259048C>T , CM000664.2:g.169259048C>T | GRCh38 |
| NC_000002.11:g.170115558C>T , CM000664.1:g.170115558C>T | GRCh37 |
| NC_000002.10:g.169823804C>T | NCBI36 |
| NG_012634.1:g.108565G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649046.1:c.2490G>A MANE Select | ENSP00000496870.1:p.Ser830= | |
| ENST00000263816.7:c.2490G>A | ENSP00000263816.3:p.Ser830= | |
| ENST00000443831.1:c.2079G>A | ENSP00000409813.1:p.Ser693= | |
| NM_004525.2:c.2490G>A | NP_004516.2:p.Ser830= | |
| XM_011511183.1:c.2490G>A | XP_011509485.1:p.Ser830= | |
| XM_011511184.1:c.201G>A | XP_011509486.1:p.Ser67= | |
| XM_011511185.1:c.2490G>A | XP_011509487.1:p.Ser830= | |
| NM_004525.3:c.2490G>A MANE Select | NP_004516.2:p.Ser830= | |
| XM_011511183.3:c.2490G>A | XP_011509485.1:p.Ser830= | |
| XM_011511184.2:c.201G>A | XP_011509486.1:p.Ser67= |