Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.137056455G>C , CM000664.2:g.137056455G>C | GRCh38 |
| NC_000002.11:g.137814025G>C , CM000664.1:g.137814025G>C | GRCh37 |
| NC_000002.10:g.137530495G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409968.6:c.175G>C MANE Select | ENSP00000387145.1:p.Gly59Arg | |
| ENST00000272643.7:c.175G>C | ENSP00000272643.4:p.Gly59Arg | |
| ENST00000409968.5:c.175G>C | ENSP00000387145.1:p.Gly59Arg | |
| ENST00000413152.3:c.82G>C | ENSP00000413841.3:p.Gly28Arg | |
| ENST00000472720.5:c.*141G>C | ENSP00000473349.1:n.*141G>C | |
| NM_001080427.1:c.82G>C | NP_001073896.1:p.Gly28Arg | |
| NM_001316349.1:c.175G>C | NP_001303278.1:p.Gly59Arg | |
| NM_001316349.2:c.175G>C MANE Select | NP_001303278.1:p.Gly59Arg |