Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.75931093C>G , CM000668.2:g.75931093C>G | GRCh38 |
| NC_000006.11:g.76640810C>G , CM000668.1:g.76640810C>G | GRCh37 |
| NC_000006.10:g.76697530C>G | NCBI36 |
| NG_041812.1:g.146586G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369950.8:c.2103G>C MANE Select | ENSP00000358966.3:p.Lys701Asn | |
| ENST00000369950.7:c.2103G>C | ENSP00000358966.3:p.Lys701Asn | |
| ENST00000369952.3:c.186G>C | ENSP00000358968.3:p.Lys62Asn | |
| ENST00000611179.4:c.1869G>C | ENSP00000481913.1:p.Lys623Asn | |
| NM_001282368.1:c.1869G>C | NP_001269297.1:p.Lys623Asn | |
| NM_001563.3:c.2103G>C | NP_001554.2:p.Lys701Asn | |
| NM_001563.4:c.2103G>C MANE Select | NP_001554.2:p.Lys701Asn | |
| NM_001282368.2:c.1869G>C | NP_001269297.1:p.Lys623Asn |