HGVS | Genome Assembly |
---|---|
NC_000006.12:g.33080792T>C , CM000668.2:g.33080792T>C | GRCh38 |
NC_000006.11:g.33048569T>C , CM000668.1:g.33048569T>C | GRCh37 |
NC_000006.10:g.33156547T>C | NCBI36 |
NG_033241.1:g.4987A>G | |
NG_033242.1:g.9867T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000418931.7:c.221T>C MANE Select | ENSP00000408146.2:p.Phe74Ser | |
ENST00000416804.1:c.121T>C | ||
ENST00000418931.6:c.221T>C | ENSP00000408146.2:p.Phe74Ser | |
ENST00000428835.5:c.152T>C | ENSP00000412654.1:p.Phe51Ser | |
ENST00000469120.1:n.253T>C | ||
ENST00000471184.5:n.270T>C | ||
ENST00000488575.1:n.270T>C | ||
ENST00000498038.1:n.350T>C | ||
NM_002121.5:c.221T>C | NP_002112.3:p.Phe74Ser | |
XM_006715078.2:c.-92T>C | XP_006715141.1:n.-92T>C | |
NM_002121.6:c.221T>C MANE Select | NP_002112.3:p.Phe74Ser |