Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48966378C>G , CM000681.2:g.48966378C>G | GRCh38 |
| NC_000019.9:g.49469635C>G , CM000681.1:g.49469635C>G | GRCh37 |
| NC_000019.8:g.54161447C>G | NCBI36 |
| NG_008152.1:g.6070C>G | |
| NG_012923.1:g.31976G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331825.11:c.347C>G MANE Select | ENSP00000366525.2:p.Ala116Gly | |
| ENST00000331825.10:c.347C>G | ENSP00000366525.2:p.Ala116Gly | |
| ENST00000622577.2:c.347C>G | ENSP00000484043.1:p.Ala116Gly | |
| NM_000146.3:c.347C>G | NP_000137.2:p.Ala116Gly | |
| XM_024451447.1:c.857C>G | XP_024307215.1:p.Ala286Gly | |
| NM_000146.4:c.347C>G MANE Select | NP_000137.2:p.Ala116Gly |