HGVS | Genome Assembly |
---|---|
NC_000015.10:g.38253043T>C , CM000677.2:g.38253043T>C | GRCh38 |
NC_000015.9:g.38545244T>C , CM000677.1:g.38545244T>C | GRCh37 |
NC_000015.8:g.36332536T>C | NCBI36 |
NG_008980.1:g.5193T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000299084.9:c.-143T>C MANE Select | ENSP00000299084.4:n.-143T>C | |
ENST00000299084.8:c.-143T>C | ENSP00000299084.4:n.-143T>C | |
ENST00000561205.1:n.196T>C | ||
NM_152594.2:c.-143T>C | NP_689807.1:n.-143T>C | |
XM_005254202.2:c.-143T>C | XP_005254259.1:n.-143T>C | |
XM_005254203.3:c.-190T>C | XP_005254260.1:n.-190T>C | |
XM_005254202.3:c.-143T>C | XP_005254259.1:n.-143T>C | |
XR_001751484.1:n.87+524A>G | ||
NM_152594.3:c.-143T>C MANE Select | NP_689807.1:n.-143T>C |