HGVS | Genome Assembly |
---|---|
NC_000023.11:g.153770294T>C , CM000685.2:g.153770294T>C | GRCh38 |
NC_000023.10:g.153035749T>C , CM000685.1:g.153035749T>C | GRCh37 |
NC_000023.9:g.152688943T>C | NCBI36 |
NG_013255.1:g.11099T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000361971.10:c.1787-44T>C MANE Select | ENSP00000355378.5:n.1787-44T>C | |
ENST00000361971.9:c.1787-44T>C | ENSP00000355378.5:n.1787-44T>C | |
ENST00000538966.5:c.1856-44T>C | ENSP00000442736.1:n.1856-44T>C | |
NM_001163257.1:c.1856-44T>C | NP_001156729.1:n.1856-44T>C | |
NM_005393.2:c.1787-44T>C | NP_005384.2:n.1787-44T>C | |
NM_005393.3:c.1787-44T>C MANE Select | NP_005384.2:n.1787-44T>C | |
NM_001163257.2:c.1856-44T>C | NP_001156729.1:n.1856-44T>C |