HGVS | Genome Assembly |
---|---|
NC_000001.11:g.145790205A>G , CM000663.2:g.145790205A>G | GRCh38 |
NC_000001.10:g.145644876T>C , CM000663.1:g.145644876T>C | GRCh37 |
NC_000001.9:g.144356233T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000582693.5:c.103-1239T>C MANE Select | ENSP00000463650.1:n.103-1239T>C | |
ENST00000582693.4:c.103-1239T>C | ENSP00000463650.1:n.103-1239T>C | |
NM_014455.3:c.103-1239T>C | NP_055270.1:n.103-1239T>C | |
XM_005272952.3:c.-49-1239T>C | XP_005273009.1:n.-49-1239T>C | |
XM_011509419.1:c.103-1239T>C | XP_011507721.1:n.103-1239T>C | |
XM_005272952.5:c.-49-1239T>C | XP_005273009.1:n.-49-1239T>C | |
XR_001737118.2:n.302-1239T>C | ||
NM_014455.4:c.103-1239T>C MANE Select | NP_055270.1:n.103-1239T>C |