HGVS | Genome Assembly |
---|---|
NC_000009.12:g.129818680T>G , CM000671.2:g.129818680T>G | GRCh38 |
NC_000009.11:g.132580959T>G , CM000671.1:g.132580959T>G | GRCh37 |
NC_000009.10:g.131620780T>G | NCBI36 |
NG_008049.1:g.10483A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000351698.5:c.621-33A>C MANE Select | ENSP00000345719.4:n.621-33A>C | |
ENST00000651202.1:c.717-33A>C | ENSP00000498222.1:n.717-33A>C | |
ENST00000351698.4:c.621-33A>C | ENSP00000345719.4:n.621-33A>C | |
ENST00000473604.2:n.731-33A>C | ||
ENST00000474192.1:n.38-33A>C | ||
NM_000113.2:c.621-33A>C | NP_000104.1:n.621-33A>C | |
XR_929731.1:n.781-33A>C | ||
XR_929731.3:n.649-33A>C | ||
NM_000113.3:c.621-33A>C MANE Select | NP_000104.1:n.621-33A>C |