HGVS | Genome Assembly |
---|---|
NC_000008.11:g.72866114T>C , CM000670.2:g.72866114T>C | GRCh38 |
NC_000008.10:g.73778349T>C , CM000670.1:g.73778349T>C | GRCh37 |
NC_000008.9:g.73940903T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000523207.2:c.580-69821T>C MANE Select | ENSP00000430846.1:n.580-69821T>C | |
ENST00000523207.1:c.580-69821T>C | ENSP00000430846.1:n.580-69821T>C | |
NM_004770.2:c.580-69821T>C | NP_004761.2:n.580-69821T>C | |
XM_017013981.1:c.-157+2410T>C | XP_016869470.1:n.-157+2410T>C | |
XR_001745620.1:n.1141-69821T>C | ||
XR_001745621.1:n.1141-69821T>C | ||
NM_004770.3:c.580-69821T>C MANE Select | NP_004761.2:n.580-69821T>C |