Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135031298T>C , CM000667.2:g.135031298T>C | GRCh38 |
| NC_000005.9:g.134366988T>C , CM000667.1:g.134366988T>C | GRCh37 |
| NC_000005.8:g.134394887T>C | NCBI36 |
| NG_012114.1:g.7977A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265340.12:c.380A>G MANE Select | ENSP00000265340.6:p.Asn127Ser | |
| ENST00000265340.11:c.380A>G | ENSP00000265340.6:p.Asn127Ser | |
| ENST00000503586.1:c.502A>G | ||
| ENST00000504936.1:n.713A>G | ||
| ENST00000506438.5:c.380A>G | ENSP00000427542.1:p.Asn127Ser | |
| ENST00000507253.5:c.380A>G | ENSP00000422908.1:p.Asn127Ser | |
| NM_002653.4:c.380A>G | NP_002644.4:p.Asn127Ser | |
| NM_002653.5:c.380A>G MANE Select | NP_002644.4:p.Asn127Ser |