HGVS | Genome Assembly |
---|---|
NC_000004.12:g.121696969T>C , CM000666.2:g.121696969T>C | GRCh38 |
NC_000004.11:g.122618124T>C , CM000666.1:g.122618124T>C | GRCh37 |
NC_000004.10:g.122837574T>C | NCBI36 |
NG_032042.1:g.5024A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000296511.10:c.-142A>G MANE Select | ENSP00000296511.5:n.-142A>G | |
ENST00000296511.9:c.-142A>G | ENSP00000296511.5:n.-142A>G | |
ENST00000509016.5:n.24A>G | ||
ENST00000511552.5:n.7A>G | ||
ENST00000513428.5:n.24A>G | ||
ENST00000513523.1:n.27A>G | ||
ENST00000513728.1:c.-142A>G | ENSP00000427135.1:n.-142A>G | |
NM_001154.3:c.-142A>G | NP_001145.1:n.-142A>G | |
XM_017008141.2:c.-142A>G | XP_016863630.1:n.-142A>G | |
NM_001154.4:c.-142A>G MANE Select | NP_001145.1:n.-142A>G |