HGVS | Genome Assembly |
---|---|
NC_000012.12:g.70856216A>G , CM000674.2:g.70856216A>G | GRCh38 |
NC_000012.11:g.71249996A>G , CM000674.1:g.71249996A>G | GRCh37 |
NC_000012.10:g.69536263A>G | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000283228.7:c.357+36463T>C MANE Select | ENSP00000283228.2:n.357+36463T>C | |
ENST00000283228.6:c.357+36463T>C | ENSP00000283228.2:n.357+36463T>C | |
NM_002849.3:c.357+36463T>C | NP_002840.2:n.357+36463T>C | |
XM_011538615.1:c.333+36463T>C | XP_011536917.1:n.333+36463T>C | |
XM_011538616.1:c.357+36463T>C | XP_011536918.1:n.357+36463T>C | |
XR_944652.1:n.745+36463T>C | ||
XM_011538615.2:c.333+36463T>C | XP_011536917.1:n.333+36463T>C | |
XR_001748830.1:n.699+36463T>C | ||
NM_002849.4:c.357+36463T>C MANE Select | NP_002840.2:n.357+36463T>C |