Linked Data
ClinVar Variation Id:
2897347
ClinVar RCV Id:
RCV003733420
dbSNP Id:
rs959091007
gnomAD v2:
2-169853207-T-C
gnomAD v3:
2-168996697-T-C
gnomAD v4:
2-168996697-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.168996697T>C , CM000664.2:g.168996697T>C | GRCh38 |
| NC_000002.11:g.169853207T>C , CM000664.1:g.169853207T>C | GRCh37 |
| NC_000002.10:g.169561453T>C | NCBI36 |
| NG_007374.1:g.39627A>G | |
| NG_007374.2:g.39700A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650372.1:c.415A>G MANE Select | ENSP00000497931.1:p.Ile139Val | |
| ENST00000263817.6:c.415A>G | ENSP00000263817.6:p.Ile139Val | |
| NM_003742.2:c.415A>G | NP_003733.2:p.Ile139Val | |
| XM_006712817.2:c.457A>G | XP_006712880.1:p.Ile153Val | |
| XM_011512077.1:c.517A>G | XP_011510379.1:p.Ile173Val | |
| XM_011512078.1:c.517A>G | XP_011510380.1:p.Ile173Val | |
| XM_011512079.1:c.517A>G | XP_011510381.1:p.Ile173Val | |
| XM_011512080.1:c.517A>G | XP_011510382.1:p.Ile173Val | |
| NM_003742.4:c.415A>G MANE Select | NP_003733.2:p.Ile139Val | |
| XM_006712817.3:c.457A>G | XP_006712880.1:p.Ile153Val | |
| XM_011512077.2:c.517A>G | XP_011510379.1:p.Ile173Val | |
| XM_011512078.2:c.517A>G | XP_011510380.1:p.Ile173Val | |
| XM_011512080.2:c.517A>G | XP_011510382.1:p.Ile173Val | |
| XM_017005165.1:c.517A>G | XP_016860654.1:p.Ile173Val |