HGVS | Genome Assembly |
---|---|
NC_000016.10:g.17138995A>G , CM000678.2:g.17138995A>G | GRCh38 |
NC_000016.9:g.17232852A>G , CM000678.1:g.17232852A>G | GRCh37 |
NC_000016.8:g.17140353A>G | NCBI36 |
NG_015843.1:g.336887T>C | |
NG_015843.2:g.336887T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261381.7:c.1588-464T>C MANE Select | ENSP00000261381.6:n.1588-464T>C | |
ENST00000261381.6:c.1588-464T>C | ENSP00000261381.6:n.1588-464T>C | |
NM_022166.3:c.1588-464T>C | NP_071449.1:n.1588-464T>C | |
XM_011522574.1:c.1588-464T>C | XP_011520876.1:n.1588-464T>C | |
XM_017023539.2:c.1588-464T>C | XP_016879028.1:n.1588-464T>C | |
XM_017023540.2:c.1588-464T>C | XP_016879029.1:n.1588-464T>C | |
NM_022166.4:c.1588-464T>C MANE Select | NP_071449.1:n.1588-464T>C |