Linked Data
ClinVar Variation Id:
259155
dbSNP Id:
rs11568377
ExAC:
2:169853220 G / A
gnomAD v2:
2-169853220-G-A
gnomAD v3:
2-168996710-G-A
gnomAD v4:
2-168996710-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.168996710G>A , CM000664.2:g.168996710G>A | GRCh38 |
| NC_000002.11:g.169853220G>A , CM000664.1:g.169853220G>A | GRCh37 |
| NC_000002.10:g.169561466G>A | NCBI36 |
| NG_007374.1:g.39614C>T | |
| NG_007374.2:g.39687C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650372.1:c.402C>T MANE Select | ENSP00000497931.1:p.Ile134= | |
| ENST00000263817.6:c.402C>T | ENSP00000263817.6:p.Ile134= | |
| NM_003742.2:c.402C>T | NP_003733.2:p.Ile134= | |
| XM_006712817.2:c.444C>T | XP_006712880.1:p.Ile148= | |
| XM_011512077.1:c.504C>T | XP_011510379.1:p.Ile168= | |
| XM_011512078.1:c.504C>T | XP_011510380.1:p.Ile168= | |
| XM_011512079.1:c.504C>T | XP_011510381.1:p.Ile168= | |
| XM_011512080.1:c.504C>T | XP_011510382.1:p.Ile168= | |
| NM_003742.4:c.402C>T MANE Select | NP_003733.2:p.Ile134= | |
| XM_006712817.3:c.444C>T | XP_006712880.1:p.Ile148= | |
| XM_011512077.2:c.504C>T | XP_011510379.1:p.Ile168= | |
| XM_011512078.2:c.504C>T | XP_011510380.1:p.Ile168= | |
| XM_011512080.2:c.504C>T | XP_011510382.1:p.Ile168= | |
| XM_017005165.1:c.504C>T | XP_016860654.1:p.Ile168= |