HGVS | Genome Assembly |
---|---|
NC_000007.14:g.21748481T>C , CM000669.2:g.21748481T>C | GRCh38 |
NC_000007.13:g.21788099T>C , CM000669.1:g.21788099T>C | GRCh37 |
NC_000007.12:g.21754624T>C | NCBI36 |
NG_012886.2:g.210267T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000409508.8:c.8511-99T>C MANE Select | ENSP00000475939.1:n.8511-99T>C | |
ENST00000328843.10:c.8532-99T>C | ENSP00000330671.7:n.8532-99T>C | |
ENST00000409508.7:c.8511-99T>C | ENSP00000475939.1:n.8511-99T>C | |
ENST00000620169.4:c.8532-99T>C | ENSP00000481693.1:n.8532-99T>C | |
NM_001277115.1:c.8511-99T>C | NP_001264044.1:n.8511-99T>C | |
NM_001277115.2:c.8511-99T>C MANE Select | NP_001264044.1:n.8511-99T>C |