Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.78304756G>C , CM000671.2:g.78304756G>C | GRCh38 |
| NC_000009.11:g.80919672G>C , CM000671.1:g.80919672G>C | GRCh37 |
| NC_000009.10:g.80109492G>C | NCBI36 |
| NG_012165.1:g.12614G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376588.4:c.213G>C MANE Select | ENSP00000365773.3:p.Lys71Asn | |
| ENST00000347159.6:c.213G>C | ENSP00000317606.2:p.Lys71Asn | |
| ENST00000376588.3:c.213G>C | ENSP00000365773.3:p.Lys71Asn | |
| NM_021154.4:c.213G>C | NP_066977.1:p.Lys71Asn | |
| NM_058179.3:c.213G>C | NP_478059.1:p.Lys71Asn | |
| NM_058179.4:c.213G>C MANE Select | NP_478059.1:p.Lys71Asn | |
| NM_021154.5:c.213G>C | NP_066977.1:p.Lys71Asn |