Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31622870G>C , CM000668.2:g.31622870G>C | GRCh38 |
| NC_000006.11:g.31590647G>C , CM000668.1:g.31590647G>C | GRCh37 |
| NC_000006.10:g.31698626G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376033.3:c.81G>C MANE Select | ENSP00000365201.2:p.Lys27Asn | |
| ENST00000376007.8:c.81G>C | ENSP00000365175.4:p.Lys27Asn | |
| ENST00000376033.2:c.81G>C | ENSP00000365201.2:p.Lys27Asn | |
| ENST00000469577.5:n.136-1391G>C | ||
| NM_004638.3:c.81G>C | NP_004629.3:p.Lys27Asn | |
| NM_080686.2:c.81G>C | NP_542417.2:p.Lys27Asn | |
| XM_011514890.1:c.81G>C | XP_011513192.1:p.Lys27Asn | |
| XM_017011274.1:c.81G>C | XP_016866763.1:p.Lys27Asn | |
| NM_004638.4:c.81G>C MANE Select | NP_004629.3:p.Lys27Asn | |
| NM_080686.3:c.81G>C | NP_542417.2:p.Lys27Asn |