Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.140563395A>T , CM000666.2:g.140563395A>T | GRCh38 |
| NC_000004.11:g.141484549A>T , CM000666.1:g.141484549A>T | GRCh37 |
| NC_000004.10:g.141703999A>T | NCBI36 |
| NG_012139.1:g.10411T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_021833.5:c.449T>A MANE Select | NP_068605.1:p.Ile150Asn |
| ENST00000262999.4:c.449T>A MANE Select | ENSP00000262999.3:p.Ile150Asn |
| NM_021833.4:c.449T>A | NP_068605.1:p.Ile150Asn |
| ENST00000262999.3:c.449T>A | ENSP00000262999.3:p.Ile150Asn |
| XM_005263206.2:c.446T>A | XP_005263263.1:p.Ile149Asn |
| XM_005263206.3:c.446T>A | XP_005263263.1:p.Ile149Asn |
| XM_011532228.1:c.449T>A | XP_011530530.1:p.Ile150Asn |
| XM_011532228.2:c.449T>A | XP_011530530.1:p.Ile150Asn |