Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6714213T>A , CM000681.2:g.6714213T>A | GRCh38 |
| NC_000019.9:g.6714224T>A , CM000681.1:g.6714224T>A | GRCh37 |
| NC_000019.8:g.6665224T>A | NCBI36 |
| NG_009557.1:g.11439A>T , LRG_27:g.11439A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.512A>T | ENSP00000512083.1:p.Asn171Ile | |
| ENST00000245907.11:c.635A>T MANE Select | ENSP00000245907.4:p.Asn212Ile | |
| ENST00000245907.10:c.635A>T | ENSP00000245907.4:p.Asn212Ile | |
| ENST00000595577.1:n.139A>T | ||
| NM_000064.3:c.635A>T | NP_000055.2:p.Asn212Ile | |
| NM_000064.4:c.635A>T MANE Select | NP_000055.2:p.Asn212Ile |