HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154863116G>A , CM000685.2:g.154863116G>A | GRCh38 |
NC_000023.10:g.154091391G>A , CM000685.1:g.154091391G>A | GRCh37 |
NC_000023.9:g.153744585G>A | NCBI36 |
NG_011403.1:g.164608C>T | |
NG_011403.2:g.164608C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000360256.9:c.6541C>T MANE Select | ENSP00000353393.4:p.Leu2181Phe | |
ENST00000644698.1:c.274C>T | ENSP00000495706.1:p.Leu92Phe | |
ENST00000330287.10:c.136C>T | ENSP00000327895.6:p.Leu46Phe | |
ENST00000360256.8:c.6541C>T | ENSP00000353393.4:p.Leu2181Phe | |
NM_000132.3:c.6541C>T | NP_000123.1:p.Leu2181Phe | |
NM_019863.2:c.136C>T | NP_063916.1:p.Leu46Phe | |
XM_011531126.1:c.6436C>T | XP_011529428.1:p.Leu2146Phe | |
NM_000132.4:c.6541C>T MANE Select | NP_000123.1:p.Leu2181Phe | |
NM_019863.3:c.136C>T | NP_063916.1:p.Leu46Phe |