HGVS | Genome Assembly |
---|---|
NC_000019.10:g.13136199T>C , CM000681.2:g.13136199T>C | GRCh38 |
NC_000019.9:g.13247013T>C , CM000681.1:g.13247013T>C | GRCh37 |
NC_000019.8:g.13108013T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000586171.3:c.947-33T>C | ENSP00000467120.2:n.947-33T>C | |
ENST00000700232.1:c.947-33T>C | ENSP00000514870.1:n.947-33T>C | |
ENST00000292431.5:c.947-33T>C MANE Select | ENSP00000292431.3:n.947-33T>C | |
ENST00000292431.4:c.947-33T>C | ENSP00000292431.3:n.947-33T>C | |
NM_052876.3:c.947-33T>C | NP_443108.1:n.947-33T>C | |
XM_005259721.2:c.947-33T>C | XP_005259778.1:n.947-33T>C | |
XM_005259721.3:c.947-33T>C | XP_005259778.1:n.947-33T>C | |
NM_052876.4:c.947-33T>C MANE Select | NP_443108.1:n.947-33T>C |