Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134842212A>C , CM000671.2:g.134842212A>C | GRCh38 |
| NC_000009.11:g.137734058A>C , CM000671.1:g.137734058A>C | GRCh37 |
| NC_000009.10:g.136873879A>C | NCBI36 |
| NG_008030.1:g.205407A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000093.5:c.5426A>C MANE Select | NP_000084.3:p.Gln1809Pro |
| ENST00000371817.8:c.5426A>C MANE Select | ENSP00000360882.3:p.Gln1809Pro |
| NM_000093.4:c.5426A>C | NP_000084.3:p.Gln1809Pro |
| NM_001278074.1:c.5426A>C | NP_001265003.1:p.Gln1809Pro |
| NR_103451.2:n.71-22003T>G | |
| ENST00000371817.7:c.5426A>C | ENSP00000360882.3:p.Gln1809Pro |
| ENST00000371820.4:c.5426A>C | ENSP00000360885.4:p.Gln1809Pro |
| ENST00000618395.4:c.5426A>C | ENSP00000481360.1:p.Gln1809Pro |