HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154860453A>G , CM000685.2:g.154860453A>G | GRCh38 |
NC_000023.10:g.154088728A>G , CM000685.1:g.154088728A>G | GRCh37 |
NC_000023.9:g.153741922A>G | NCBI36 |
NG_011403.1:g.167271T>C | |
NG_011403.2:g.167271T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000360256.9:c.6879T>C MANE Select | ENSP00000353393.4:p.Phe2293= | |
ENST00000644698.1:c.612T>C | ENSP00000495706.1:p.Phe204= | |
ENST00000330287.10:c.474T>C | ENSP00000327895.6:p.Phe158= | |
ENST00000360256.8:c.6879T>C | ENSP00000353393.4:p.Phe2293= | |
NM_000132.3:c.6879T>C | NP_000123.1:p.Phe2293= | |
NM_019863.2:c.474T>C | NP_063916.1:p.Phe158= | |
XM_011531126.1:c.6774T>C | XP_011529428.1:p.Phe2258= | |
NM_000132.4:c.6879T>C MANE Select | NP_000123.1:p.Phe2293= | |
NM_019863.3:c.474T>C | NP_063916.1:p.Phe158= |