Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154158851G>T , CM000685.2:g.154158851G>T | GRCh38 |
| NC_000023.10:g.153424326G>T , CM000685.1:g.153424326G>T | GRCh37 |
| NC_000023.9:g.153077520G>T | NCBI36 |
| NG_009105.2:g.19601G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369951.9:c.1020G>T MANE Select | ENSP00000358967.4:p.Lys340Asn | |
| ENST00000369951.8:c.1020G>T | ENSP00000358967.4:p.Lys340Asn | |
| ENST00000442922.1:c.420G>T | ENSP00000402493.1:p.Lys140Asn | |
| NM_020061.5:c.1020G>T | NP_064445.2:p.Lys340Asn | |
| NM_020061.6:c.1020G>T MANE Select | NP_064445.2:p.Lys340Asn |