HGVS | Genome Assembly |
---|---|
NC_000002.12:g.136797654T>C , CM000664.2:g.136797654T>C | GRCh38 |
NC_000002.11:g.137555224T>C , CM000664.1:g.137555224T>C | GRCh37 |
NC_000002.10:g.137271694T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000409968.6:c.-36+31967T>C MANE Select | ENSP00000387145.1:n.-36+31967T>C | |
ENST00000409968.5:c.-36+31967T>C | ENSP00000387145.1:n.-36+31967T>C | |
ENST00000472720.5:c.-36+31967T>C | ENSP00000473349.1:n.-36+31967T>C | |
NM_001316349.1:c.-36+31967T>C | NP_001303278.1:n.-36+31967T>C | |
NM_001316349.2:c.-36+31967T>C MANE Select | NP_001303278.1:n.-36+31967T>C |