HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154863115A>C , CM000685.2:g.154863115A>C | GRCh38 |
NC_000023.10:g.154091390A>C , CM000685.1:g.154091390A>C | GRCh37 |
NC_000023.9:g.153744584A>C | NCBI36 |
NG_011403.1:g.164609T>G | |
NG_011403.2:g.164609T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000360256.9:c.6542T>G MANE Select | ENSP00000353393.4:p.Leu2181Arg | |
ENST00000644698.1:c.275T>G | ENSP00000495706.1:p.Leu92Arg | |
ENST00000330287.10:c.137T>G | ENSP00000327895.6:p.Leu46Arg | |
ENST00000360256.8:c.6542T>G | ENSP00000353393.4:p.Leu2181Arg | |
NM_000132.3:c.6542T>G | NP_000123.1:p.Leu2181Arg | |
NM_019863.2:c.137T>G | NP_063916.1:p.Leu46Arg | |
XM_011531126.1:c.6437T>G | XP_011529428.1:p.Leu2146Arg | |
NM_000132.4:c.6542T>G MANE Select | NP_000123.1:p.Leu2181Arg | |
NM_019863.3:c.137T>G | NP_063916.1:p.Leu46Arg |