Linked Data
ClinVar Variation Id:
1895758
ClinVar RCV Id:
RCV002571782
dbSNP Id:
rs1236321312
gnomAD v2:
6-99374409-A-G
gnomAD v4:
6-98926533-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.98926533A>G , CM000668.2:g.98926533A>G | GRCh38 |
| NC_000006.11:g.99374409A>G , CM000668.1:g.99374409A>G | GRCh37 |
| NC_000006.10:g.99481130A>G | NCBI36 |
| NG_033903.1:g.26474T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369244.7:c.456T>C MANE Select | ENSP00000358247.1:p.Ile152= | |
| ENST00000229971.2:c.456T>C | ENSP00000229971.1:p.Ile152= | |
| ENST00000369244.6:c.456T>C | ENSP00000358247.1:p.Ile152= | |
| NM_001278716.1:c.456T>C | NP_001265645.1:p.Ile152= | |
| NM_012160.4:c.456T>C | NP_036292.2:p.Ile152= | |
| NR_103836.1:n.847T>C | ||
| NR_103837.1:n.847T>C | ||
| XM_005266930.1:c.456T>C | XP_005266987.1:p.Ile152= | |
| XM_011535748.1:c.456T>C | XP_011534050.1:p.Ile152= | |
| XM_005266930.3:c.456T>C | XP_005266987.1:p.Ile152= | |
| XM_011535748.3:c.456T>C | XP_011534050.1:p.Ile152= | |
| XM_017010726.1:c.456T>C | XP_016866215.1:p.Ile152= | |
| XM_017010727.2:c.456T>C | XP_016866216.1:p.Ile152= | |
| XM_017010728.1:c.-347T>C | XP_016866217.1:n.-347T>C | |
| NM_001278716.2:c.456T>C MANE Select | NP_001265645.1:p.Ile152= | |
| NR_103836.2:n.787T>C | ||
| NR_103837.2:n.787T>C | ||
| NM_012160.5:c.456T>C | NP_036292.2:p.Ile152= |