Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.123366143A>T , CM000668.2:g.123366143A>T | GRCh38 |
| NC_000006.11:g.123687288A>T , CM000668.1:g.123687288A>T | GRCh37 |
| NC_000006.10:g.123728987A>T | NCBI36 |
| NG_030438.1:g.275951T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334268.9:c.1313T>A MANE Select | ENSP00000333984.5:p.Ile438Asn | |
| ENST00000662930.1:c.1316T>A | ENSP00000499585.1:p.Ile439Asn | |
| ENST00000334268.8:c.1313T>A | ENSP00000333984.5:p.Ile438Asn | |
| NM_001251987.1:c.1316T>A | NP_001238916.1:p.Ile439Asn | |
| NM_006073.3:c.1313T>A | NP_006064.2:p.Ile438Asn | |
| XM_011535382.1:c.1310T>A | XP_011533684.1:p.Ile437Asn | |
| NM_006073.4:c.1313T>A MANE Select | NP_006064.2:p.Ile438Asn | |
| NM_001251987.2:c.1316T>A | NP_001238916.1:p.Ile439Asn |