Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189110349A>G , CM000664.2:g.189110349A>G | GRCh38 |
| NC_000002.11:g.189975075A>G , CM000664.1:g.189975075A>G | GRCh37 |
| NC_000002.10:g.189683320A>G | NCBI36 |
| NG_011799.1:g.74531T>C | |
| NG_011799.2:g.74531T>C | |
| NG_011799.3:g.119953T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000393.5:c.198T>C MANE Select | NP_000384.2:p.Asn66= |
| ENST00000374866.9:c.198T>C MANE Select | ENSP00000364000.3:p.Asn66= |
| NM_000393.3:c.198T>C | NP_000384.2:p.Asn66= |
| NM_000393.4:c.198T>C | NP_000384.2:p.Asn66= |
| ENST00000374866.7:c.198T>C | ENSP00000364000.3:p.Asn66= |
| ENST00000618828.1:c.-433T>C | ENSP00000482184.1:n.-433T>C |
| ENST00000649966.1:c.60T>C | ENSP00000496785.1:p.Asn20= |
| XM_011510573.1:c.60T>C | XP_011508875.1:p.Asn20= |
| XM_011510573.3:c.60T>C | XP_011508875.1:p.Asn20= |