Linked Data
ClinVar Variation Id:
1900077
ClinVar RCV Id:
RCV002576327
dbSNP Id:
rs1354475024
gnomAD v2:
6-129826377-T-C
gnomAD v4:
6-129505232-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.129505232T>C , CM000668.2:g.129505232T>C | GRCh38 |
| NC_000006.11:g.129826377T>C , CM000668.1:g.129826377T>C | GRCh37 |
| NC_000006.10:g.129868070T>C | NCBI36 |
| NG_008678.1:g.627092T>C , LRG_409:g.627092T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000494137.2:c.645T>C | ENSP00000510626.1:p.Ile215= | |
| ENST00000498257.6:c.645T>C | ENSP00000510533.1:p.Ile215= | |
| ENST00000617695.5:c.8568T>C | ENSP00000481744.2:p.Ile2856= | |
| ENST00000618192.5:c.8844T>C | ENSP00000480802.2:p.Ile2948= | |
| ENST00000688198.1:n.1558T>C | ||
| ENST00000688799.1:c.645T>C | ENSP00000508458.1:p.Ile215= | |
| ENST00000690858.1:n.1574T>C | ||
| ENST00000693461.1:n.917T>C | ||
| ENST00000421865.3:c.8580T>C MANE Select | ENSP00000400365.2:p.Ile2860= | |
| ENST00000421865.2:c.8580T>C | ENSP00000400365.2:p.Ile2860= | |
| ENST00000617695.4:c.8568T>C | ENSP00000481744.1:p.Ile2856= | |
| ENST00000618192.4:c.8577T>C | ENSP00000480802.1:p.Ile2859= | |
| NM_000426.3:c.8580T>C , LRG_409t1:c.8580T>C | NP_000417.2:p.Ile2860= | |
| NM_001079823.1:c.8568T>C | NP_001073291.1:p.Ile2856= | |
| XM_005266981.2:c.8844T>C | XP_005267038.1:p.Ile2948= | |
| XM_005266982.2:c.8832T>C | XP_005267039.1:p.Ile2944= | |
| XM_011535820.1:c.8838T>C | XP_011534122.1:p.Ile2946= | |
| XR_942984.1:n.1461-2441A>G | ||
| XR_942985.1:n.1325-2441A>G | ||
| XM_005266981.3:c.8844T>C | XP_005267038.1:p.Ile2948= | |
| XM_005266982.3:c.8832T>C | XP_005267039.1:p.Ile2944= | |
| XM_011535820.2:c.8838T>C | XP_011534122.1:p.Ile2946= | |
| XM_017010851.2:c.8850T>C | XP_016866340.1:p.Ile2950= | |
| XM_017010852.1:c.6975T>C | XP_016866341.1:p.Ile2325= | |
| XR_001743859.1:n.3901-2441A>G | ||
| XR_001743860.1:n.1180-2441A>G | ||
| XR_001743861.1:n.1347-2441A>G | ||
| XR_001743863.1:n.883-2441A>G | ||
| XR_002956395.1:n.9132-2441A>G | ||
| XR_002956396.1:n.3127-2441A>G | ||
| NM_000426.4:c.8580T>C MANE Select | NP_000417.3:p.Ile2860= | |
| NM_001079823.2:c.8568T>C | NP_001073291.2:p.Ile2856= |