Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.142954279A>T , CM000669.2:g.142954279A>T | GRCh38 |
| NC_000007.13:g.142651366A>T , CM000669.1:g.142651366A>T | GRCh37 |
| NC_000007.12:g.142361488A>T | NCBI36 |
| NG_007492.1:g.13138T>A | |
| NG_007492.2:g.13138T>A | |
| NG_007492.3:g.13138T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355265.7:c.829T>A MANE Select | ENSP00000347409.2:p.Ser277Thr | |
| ENST00000355265.6:c.829T>A | ENSP00000347409.2:p.Ser277Thr | |
| ENST00000479768.6:n.947T>A | ||
| NM_000420.2:c.829T>A | NP_000411.1:p.Ser277Thr | |
| XM_005249993.2:c.865T>A | XP_005250050.1:p.Ser289Thr | |
| XM_005249994.3:c.-119T>A | XP_005250051.1:n.-119T>A | |
| NM_000420.3:c.829T>A MANE Select | NP_000411.1:p.Ser277Thr |