Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24290999C>T , CM000668.2:g.24290999C>T | GRCh38 |
| NC_000006.11:g.24291227C>T , CM000668.1:g.24291227C>T | GRCh37 |
| NC_000006.10:g.24399206C>T | NCBI36 |
| NG_012829.1:g.72054G>A | |
| NG_012829.2:g.97294G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378454.8:c.637G>A MANE Select | ENSP00000367715.3:p.Asp213Asn | |
| ENST00000378454.7:c.637G>A | ENSP00000367715.3:p.Asp213Asn | |
| NM_001195610.1:c.637G>A | NP_001182539.1:p.Asp213Asn | |
| NM_016356.4:c.637G>A | NP_057440.2:p.Asp213Asn | |
| NM_016356.5:c.637G>A MANE Select | NP_057440.2:p.Asp213Asn | |
| NM_001195610.2:c.637G>A | NP_001182539.1:p.Asp213Asn |