Linked Data
ClinVar Variation Id:
1447640
dbSNP Id:
rs1263759203
gnomAD v3:
19-4110571-T-C
gnomAD v4:
19-4110571-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4110571T>C , CM000681.2:g.4110571T>C | GRCh38 |
| NC_000019.9:g.4110569T>C , CM000681.1:g.4110569T>C | GRCh37 |
| NC_000019.8:g.4061569T>C | NCBI36 |
| NG_007996.1:g.18558A>G , LRG_750:g.18558A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394867.9:n.827A>G | ||
| ENST00000687128.1:n.827A>G | ||
| ENST00000262948.10:c.388A>G MANE Select | ENSP00000262948.4:p.Ile130Val | |
| ENST00000262948.9:c.388A>G | ENSP00000262948.3:p.Ile130Val | |
| ENST00000394867.8:c.97A>G | ENSP00000378336.1:p.Ile33Val | |
| ENST00000599345.1:n.585A>G | ||
| NM_030662.3:c.388A>G , LRG_750t1:c.388A>G | NP_109587.1:p.Ile130Val | |
| XM_006722799.2:c.388A>G | XP_006722862.1:p.Ile130Val | |
| XM_017026989.1:c.388A>G | XP_016882478.1:p.Ile130Val | |
| XM_017026990.1:c.388A>G | XP_016882479.1:p.Ile130Val | |
| XM_017026991.1:c.388A>G | XP_016882480.1:p.Ile130Val | |
| NM_030662.4:c.388A>G MANE Select | NP_109587.1:p.Ile130Val |