Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154863127A>T , CM000685.2:g.154863127A>T | GRCh38 |
| NC_000023.10:g.154091402A>T , CM000685.1:g.154091402A>T | GRCh37 |
| NC_000023.9:g.153744596A>T | NCBI36 |
| NG_011403.1:g.164597T>A | |
| NG_011403.2:g.164597T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000132.4:c.6530T>A MANE Select | NP_000123.1:p.Ile2177Asn |
| ENST00000360256.9:c.6530T>A MANE Select | ENSP00000353393.4:p.Ile2177Asn |
| NM_000132.3:c.6530T>A | NP_000123.1:p.Ile2177Asn |
| NM_019863.2:c.125T>A | NP_063916.1:p.Ile42Asn |
| NM_019863.3:c.125T>A | NP_063916.1:p.Ile42Asn |
| ENST00000330287.10:c.125T>A | ENSP00000327895.6:p.Ile42Asn |
| ENST00000360256.8:c.6530T>A | ENSP00000353393.4:p.Ile2177Asn |
| ENST00000644698.1:c.263T>A | ENSP00000495706.1:p.Ile88Asn |
| XM_011531126.1:c.6425T>A | XP_011529428.1:p.Ile2142Asn |