HGVS | Genome Assembly |
---|---|
NC_000012.12:g.66203804G>T , CM000674.2:g.66203804G>T | GRCh38 |
NC_000012.11:g.66597584G>T , CM000674.1:g.66597584G>T | GRCh37 |
NC_000012.10:g.64883851G>T | NCBI36 |
NG_021194.1:g.19607G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000261233.9:c.227G>T MANE Select | ENSP00000261233.4:p.Trp76Leu | |
ENST00000261233.8:c.227G>T | ENSP00000261233.4:p.Trp76Leu | |
ENST00000457197.2:c.134-5652G>T | ENSP00000409852.2:n.134-5652G>T | |
NM_001142523.1:c.134-5652G>T | NP_001135995.1:n.134-5652G>T | |
NM_007199.2:c.227G>T | NP_009130.2:p.Trp76Leu | |
NM_001142523.2:c.134-5652G>T | NP_001135995.1:n.134-5652G>T | |
NM_007199.3:c.227G>T MANE Select | NP_009130.2:p.Trp76Leu |