HGVS | Genome Assembly |
---|---|
NC_000012.12:g.65246114T>C , CM000674.2:g.65246114T>C | GRCh38 |
NC_000012.11:g.65639894T>C , CM000674.1:g.65639894T>C | GRCh37 |
NC_000012.10:g.63926161T>C | NCBI36 |
NG_016210.1:g.81544T>C | |
NG_016210.2:g.81544T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000308330.3:c.2573-48T>C MANE Select | ENSP00000308369.2:n.2573-48T>C | |
ENST00000308330.2:c.2573-48T>C | ENSP00000308369.2:n.2573-48T>C | |
ENST00000539442.1:n.555-48T>C | ||
ENST00000544506.1:n.293-48T>C | ||
ENST00000545026.1:n.391-48T>C | ||
NM_001167614.1:c.2570-48T>C | NP_001161086.1:n.2570-48T>C | |
NM_014319.4:c.2573-48T>C | NP_055134.2:n.2573-48T>C | |
NM_014319.5:c.2573-48T>C MANE Select | NP_055134.2:n.2573-48T>C | |
NM_001167614.2:c.2570-48T>C | NP_001161086.1:n.2570-48T>C |