Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.65240023G>T , CM000674.2:g.65240023G>T | GRCh38 |
| NC_000012.11:g.65633803G>T , CM000674.1:g.65633803G>T | GRCh37 |
| NC_000012.10:g.63920070G>T | NCBI36 |
| NG_016210.1:g.75453G>T | |
| NG_016210.2:g.75453G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308330.3:c.2016G>T MANE Select | ENSP00000308369.2:p.Lys672Asn | |
| ENST00000308330.2:c.2016G>T | ENSP00000308369.2:p.Lys672Asn | |
| NM_001167614.1:c.2013G>T | NP_001161086.1:p.Lys671Asn | |
| NM_014319.4:c.2016G>T | NP_055134.2:p.Lys672Asn | |
| NM_014319.5:c.2016G>T MANE Select | NP_055134.2:p.Lys672Asn | |
| NM_001167614.2:c.2013G>T | NP_001161086.1:p.Lys671Asn |