Linked Data
dbSNP Id:
rs1181321563
gnomAD v2:
10-101590123-A-C
gnomAD v3:
10-99830366-A-C
gnomAD v4:
10-99830366-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99830366A>C , CM000672.2:g.99830366A>C | GRCh38 |
| NC_000010.10:g.101590123A>C , CM000672.1:g.101590123A>C | GRCh37 |
| NC_000010.9:g.101580113A>C | NCBI36 |
| NG_011798.1:g.52661A>C | |
| NG_011798.2:g.52769A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647814.1:c.2680A>C MANE Select | ENSP00000497274.1:p.Ile894Leu | |
| ENST00000370449.8:c.2680A>C | ENSP00000359478.4:p.Ile894Leu | |
| NM_000392.4:c.2680A>C | NP_000383.1:p.Ile894Leu | |
| XM_006717630.2:c.1984A>C | XP_006717693.1:p.Ile662Leu | |
| XM_006717631.2:c.*107A>C | XP_006717694.1:n.*107A>C | |
| XM_011539291.1:c.2680A>C | XP_011537593.1:p.Ile894Leu | |
| XR_945604.1:n.2869A>C | ||
| XR_945605.1:n.2871A>C | ||
| NM_000392.5:c.2680A>C MANE Select | NP_000383.2:p.Ile894Leu | |
| XM_006717630.3:c.1984A>C | XP_006717693.1:p.Ile662Leu | |
| XM_006717631.4:c.*107A>C | XP_006717694.1:n.*107A>C | |
| XM_011539291.3:c.2680A>C | XP_011537593.1:p.Ile894Leu | |
| XR_945604.3:n.2923A>C | ||
| XR_945605.3:n.2923A>C |