Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45990284G>C , CM000683.2:g.45990284G>C | GRCh38 |
| NC_000021.8:g.47410198G>C , CM000683.1:g.47410198G>C | GRCh37 |
| NC_000021.7:g.46234626G>C | NCBI36 |
| NG_008674.1:g.13536G>C , LRG_475:g.13536G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001848.3:c.957G>C MANE Select | NP_001839.2:p.Lys319Asn |
| ENST00000361866.8:c.957G>C MANE Select | ENSP00000355180.3:p.Lys319Asn |
| NM_001848.2:c.957G>C , LRG_475t1:c.957G>C | NP_001839.2:p.Lys319Asn |
| ENST00000361866.7:c.957G>C | ENSP00000355180.3:p.Lys319Asn |
| ENST00000612273.1:c.957G>C | ENSP00000483630.1:p.Lys319Asn |