Linked Data
ClinVar Variation Id:
788
ClinVar RCV Id:
RCV000000824
RCV000029945
RCV000157243
RCV000203752
RCV000170920
RCV000620285
RCV000852958
RCV001081825
RCV003952333
dbSNP Id:
rs72552293
ExAC:
3:32181723 A / G
gnomAD v2:
3-32181723-A-G
gnomAD v3:
3-32140231-A-G
gnomAD v4:
3-32140231-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.32140231A>G , CM000665.2:g.32140231A>G | GRCh38 |
| NC_000003.11:g.32181723A>G , CM000665.1:g.32181723A>G | GRCh37 |
| NC_000003.10:g.32156727A>G | NCBI36 |
| NG_023375.1:g.38721A>G , LRG_419:g.38721A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282541.10:c.370A>G MANE Select | ENSP00000282541.6:p.Ile124Val | |
| ENST00000282541.9:c.370A>G | ENSP00000282541.5:p.Ile124Val | |
| ENST00000425459.5:c.229A>G | ENSP00000408770.1:p.Ile77Val | |
| ENST00000428684.1:c.192A>G | ENSP00000392199.1:p.Ala64= | |
| ENST00000429432.5:c.253A>G | ENSP00000393861.1:p.Ile85Val | |
| ENST00000431009.1:c.253A>G | ENSP00000416518.1:p.Ile85Val | |
| NM_015141.3:c.370A>G , LRG_419t1:c.370A>G | NP_055956.1:p.Ile124Val | |
| XM_005264983.2:c.370A>G | XP_005265040.1:p.Ile124Val | |
| XM_006713068.2:c.229A>G | XP_006713131.1:p.Ile77Val | |
| NM_015141.4:c.370A>G MANE Select | NP_055956.1:p.Ile124Val |