Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.26905733T>G , CM000671.2:g.26905733T>G | GRCh38 |
| NC_000009.11:g.26905731T>G , CM000671.1:g.26905731T>G | GRCh37 |
| NC_000009.10:g.26895731T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001031689.3:c.2166A>C MANE Select | NP_001026859.1:p.Lys722Asn |
| ENST00000397292.8:c.2166A>C MANE Select | ENSP00000380460.3:p.Lys722Asn |
| NM_001031689.2:c.2166A>C | NP_001026859.1:p.Lys722Asn |
| NM_001321546.1:c.2097A>C | NP_001308475.1:p.Lys699Asn |
| NM_001321546.2:c.2097A>C | NP_001308475.1:p.Lys699Asn |
| ENST00000397292.7:c.2166A>C | ENSP00000380460.3:p.Lys722Asn |
| XM_011518071.1:c.2097A>C | XP_011516373.1:p.Lys699Asn |
| XR_001746420.2:n.2471A>C |