Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15445701G>C , CM000663.2:g.15445701G>C | GRCh38 |
| NC_000001.10:g.15772196G>C , CM000663.1:g.15772196G>C | GRCh37 |
| NC_000001.9:g.15644783G>C | NCBI36 |
| NG_009253.1:g.12259G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375949.5:c.744G>C MANE Select | ENSP00000365116.4:p.Lys248Asn | |
| ENST00000375943.6:c.*198G>C | ENSP00000365110.2:n.*198G>C | |
| ENST00000375949.4:c.744G>C | ENSP00000365116.4:p.Lys248Asn | |
| ENST00000483406.1:n.508G>C | ||
| NM_007272.2:c.744G>C | NP_009203.2:p.Lys248Asn | |
| XM_011540550.1:c.598G>C | XP_011538852.1:p.Ala200Pro | |
| NM_007272.3:c.744G>C MANE Select | NP_009203.2:p.Lys248Asn |