HGVS | Genome Assembly |
---|---|
NC_000023.11:g.78123077T>C , CM000685.2:g.78123077T>C | GRCh38 |
NC_000023.10:g.77378574T>C , CM000685.1:g.77378574T>C | GRCh37 |
NC_000023.9:g.77265230T>C | NCBI36 |
NG_008862.1:g.23909T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000373316.5:c.757-118T>C MANE Select | ENSP00000362413.4:n.757-118T>C | |
ENST00000644362.1:c.673-118T>C | ENSP00000496140.1:n.673-118T>C | |
ENST00000373316.4:c.757-118T>C | ENSP00000362413.4:n.757-118T>C | |
ENST00000474281.1:n.163+76T>C | ||
NM_000291.3:c.757-118T>C | NP_000282.1:n.757-118T>C | |
NM_000291.4:c.757-118T>C MANE Select | NP_000282.1:n.757-118T>C |