Linked Data
ClinVar Variation Id:
1996376
ClinVar RCV Id:
RCV002802008
gnomAD v4:
12-101760084-G-A
MyVariant Identifiers:
chr12:g.102153862G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101760084G>A , CM000674.2:g.101760084G>A | GRCh38 |
| NC_000012.11:g.102153862G>A , CM000674.1:g.102153862G>A | GRCh37 |
| NC_000012.10:g.100677993G>A | NCBI36 |
| NG_021243.1:g.75784C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.3195C>T MANE Select | ENSP00000299314.7:p.Ile1065= | |
| ENST00000299314.11:c.3195C>T | ENSP00000299314.7:p.Ile1065= | |
| ENST00000549194.1:n.61C>T | ||
| ENST00000550718.1:c.7C>T | ||
| NM_024312.4:c.3195C>T | NP_077288.2:p.Ile1065= | |
| XM_006719593.2:c.3195C>T | XP_006719656.1:p.Ile1065= | |
| XM_011538731.1:c.3114C>T | XP_011537033.1:p.Ile1038= | |
| XM_006719593.3:c.3195C>T | XP_006719656.1:p.Ile1065= | |
| XM_011538731.2:c.3114C>T | XP_011537033.1:p.Ile1038= | |
| XM_017019961.1:c.2979C>T | XP_016875450.1:p.Ile993= | |
| XM_017019962.2:c.1968C>T | XP_016875451.1:p.Ile656= | |
| NM_024312.5:c.3195C>T MANE Select | NP_077288.2:p.Ile1065= |