Linked Data
MyVariant Identifiers:
chr12:g.102147158C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101753380C>T , CM000674.2:g.101753380C>T | GRCh38 |
| NC_000012.11:g.102147158C>T , CM000674.1:g.102147158C>T | GRCh37 |
| NC_000012.10:g.100671289C>T | NCBI36 |
| NG_021243.1:g.82488G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.3594G>A MANE Select | ENSP00000299314.7:p.Leu1198= | |
| ENST00000299314.11:c.3594G>A | ENSP00000299314.7:p.Leu1198= | |
| ENST00000549738.5:c.492G>A | ENSP00000450161.1:n.492G>A | |
| NM_024312.4:c.3594G>A | NP_077288.2:p.Leu1198= | |
| XM_011538731.1:c.3513G>A | XP_011537033.1:p.Leu1171= | |
| XM_011538731.2:c.3513G>A | XP_011537033.1:p.Leu1171= | |
| XM_017019961.1:c.3378G>A | XP_016875450.1:p.Leu1126= | |
| XM_017019962.2:c.2367G>A | XP_016875451.1:p.Leu789= | |
| NM_024312.5:c.3594G>A MANE Select | NP_077288.2:p.Leu1198= |