Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128300824G>C , CM000667.2:g.128300824G>C | GRCh38 |
| NC_000005.9:g.127636516G>C , CM000667.1:g.127636516G>C | GRCh37 |
| NC_000005.8:g.127664415G>C | NCBI36 |
| NG_008750.1:g.242220C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.2943C>G | ||
| ENST00000703785.1:n.2862C>G | ||
| ENST00000262464.9:c.6159C>G MANE Select | ENSP00000262464.4:p.Asn2053Lys | |
| ENST00000262464.8:c.6159C>G | ENSP00000262464.4:p.Asn2053Lys | |
| ENST00000508053.5:c.6159C>G | ENSP00000424571.1:p.Asn2053Lys | |
| ENST00000619499.4:c.6156C>G | ENSP00000482132.1:p.Asn2052Lys | |
| NM_001999.3:c.6159C>G | NP_001990.2:p.Asn2053Lys | |
| XM_017009228.2:c.6006C>G | XP_016864717.1:p.Asn2002Lys | |
| NM_001999.4:c.6159C>G MANE Select | NP_001990.2:p.Asn2053Lys |