Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128344437T>G , CM000667.2:g.128344437T>G | GRCh38 |
| NC_000005.9:g.127680129T>G , CM000667.1:g.127680129T>G | GRCh37 |
| NC_000005.8:g.127708028T>G | NCBI36 |
| NG_008750.1:g.198607A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262464.9:c.3291A>C MANE Select | ENSP00000262464.4:p.Lys1097Asn | |
| ENST00000262464.8:c.3291A>C | ENSP00000262464.4:p.Lys1097Asn | |
| ENST00000508053.5:c.3291A>C | ENSP00000424571.1:p.Lys1097Asn | |
| ENST00000508989.5:c.3192A>C | ENSP00000425596.1:p.Lys1064Asn | |
| ENST00000619499.4:c.3288A>C | ENSP00000482132.1:p.Lys1096Asn | |
| NM_001999.3:c.3291A>C | NP_001990.2:p.Lys1097Asn | |
| XM_017009228.2:c.3138A>C | XP_016864717.1:p.Lys1046Asn | |
| NM_001999.4:c.3291A>C MANE Select | NP_001990.2:p.Lys1097Asn |