HGVS | Genome Assembly |
---|---|
NC_000012.12:g.20753056T>C , CM000674.2:g.20753056T>C | GRCh38 |
NC_000012.11:g.20905990T>C , CM000674.1:g.20905990T>C | GRCh37 |
NC_000012.10:g.20797257T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000266509.7:c.*528T>C MANE Select | ENSP00000266509.2:n.*528T>C | |
ENST00000266509.6:c.*528T>C | ENSP00000266509.2:n.*528T>C | |
ENST00000545102.1:c.*577T>C | ENSP00000444527.1:n.*577T>C | |
NM_001145944.1:c.*577T>C | NP_001139416.1:n.*577T>C | |
NM_001145945.1:c.*528T>C | NP_001139417.1:n.*528T>C | |
NM_001145946.1:c.*577T>C | NP_001139418.1:n.*577T>C | |
NM_017435.4:c.*528T>C | NP_059131.1:n.*528T>C | |
XM_005253394.1:c.*528T>C | XP_005253451.1:n.*528T>C | |
XM_005253396.1:c.*577T>C | XP_005253453.1:n.*577T>C | |
XM_011520703.1:c.*577T>C | XP_011519005.1:n.*577T>C | |
XM_011520704.1:c.*528T>C | XP_011519006.1:n.*528T>C | |
XM_011520705.1:c.*577T>C | XP_011519007.1:n.*577T>C | |
XM_011520706.1:c.*577T>C | XP_011519008.1:n.*577T>C | |
XM_011520707.1:c.*577T>C | XP_011519009.1:n.*577T>C | |
XM_011520708.1:c.*577T>C | XP_011519010.1:n.*577T>C | |
XM_011520709.1:c.*577T>C | XP_011519011.1:n.*577T>C | |
XM_011520711.1:c.*577T>C | XP_011519013.1:n.*577T>C | |
XM_011520712.1:c.*577T>C | XP_011519014.1:n.*577T>C | |
XM_011520713.1:c.*577T>C | XP_011519015.1:n.*577T>C | |
XM_005253394.3:c.*528T>C | XP_005253451.1:n.*528T>C | |
XM_005253396.3:c.*577T>C | XP_005253453.1:n.*577T>C | |
XM_011520703.3:c.*577T>C | XP_011519005.1:n.*577T>C | |
XM_011520704.3:c.*528T>C | XP_011519006.1:n.*528T>C | |
XM_011520711.3:c.*577T>C | XP_011519013.1:n.*577T>C | |
XM_017019486.2:c.*528T>C | XP_016874975.1:n.*528T>C | |
XM_017019487.2:c.*528T>C | XP_016874976.1:n.*528T>C | |
XM_017019489.2:c.*577T>C | XP_016874978.1:n.*577T>C | |
XM_017019490.2:c.*577T>C | XP_016874979.1:n.*577T>C | |
XM_024449024.1:c.*577T>C | XP_024304792.1:n.*577T>C | |
XM_024449025.1:c.*577T>C | XP_024304793.1:n.*577T>C | |
XR_001748768.2:n.16118T>C | ||
XR_001748769.2:n.16015T>C | ||
XR_001748770.2:n.16012T>C | ||
XR_001748771.2:n.16715T>C | ||
NM_001145944.2:c.*577T>C | NP_001139416.1:n.*577T>C | |
NM_001145945.2:c.*528T>C | NP_001139417.1:n.*528T>C | |
NM_001145946.2:c.*577T>C | NP_001139418.1:n.*577T>C | |
NM_017435.5:c.*528T>C MANE Select | NP_059131.1:n.*528T>C |