HGVS | Genome Assembly |
---|---|
NC_000012.12:g.6819581T>C , CM000674.2:g.6819581T>C | GRCh38 |
NC_000012.11:g.6928747T>C , CM000674.1:g.6928747T>C | GRCh37 |
NC_000012.10:g.6799008T>C | NCBI36 |
NG_027688.1:g.35110T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000011653.9:c.*252T>C MANE Select | ENSP00000011653.4:n.*252T>C | |
ENST00000011653.8:c.*252T>C | ENSP00000011653.4:n.*252T>C | |
ENST00000437800.6:n.1867T>C | ||
NM_000616.4:c.*252T>C | NP_000607.1:n.*252T>C | |
NM_001195014.2:c.*252T>C | NP_001181943.1:n.*252T>C | |
NM_001195015.2:c.*252T>C | NP_001181944.1:n.*252T>C | |
NM_001195016.2:c.*252T>C | NP_001181945.1:n.*252T>C | |
NM_001195017.2:c.*252T>C | NP_001181946.1:n.*252T>C | |
XM_011521039.1:c.*252T>C | XP_011519341.1:n.*252T>C | |
XM_017020228.2:c.*252T>C | XP_016875717.1:n.*252T>C | |
NM_000616.5:c.*252T>C MANE Select | NP_000607.1:n.*252T>C | |
NM_001195014.3:c.*252T>C | NP_001181943.1:n.*252T>C | |
NM_001195015.3:c.*252T>C | NP_001181944.1:n.*252T>C | |
NM_001195016.3:c.*252T>C | NP_001181945.1:n.*252T>C | |
NM_001195017.3:c.*252T>C | NP_001181946.1:n.*252T>C | |
NM_001382705.1:c.*252T>C | NP_001369634.1:n.*252T>C | |
NM_001382706.1:c.*252T>C | NP_001369635.1:n.*252T>C | |
NM_001382707.1:c.*252T>C | NP_001369636.1:n.*252T>C | |
NM_001382714.1:c.*252T>C | NP_001369643.1:n.*252T>C |