HGVS | Genome Assembly |
---|---|
NC_000009.12:g.74523025T>C , CM000671.2:g.74523025T>C | GRCh38 |
NC_000009.11:g.77137941T>C , CM000671.1:g.77137941T>C | GRCh37 |
NC_000009.10:g.76327761T>C | NCBI36 |
NG_046926.2:g.30690T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000376896.8:c.7+25042T>C MANE Select | ENSP00000366093.2:n.7+25042T>C | |
ENST00000376896.7:c.7+25042T>C | ENSP00000366093.2:n.7+25042T>C | |
NM_006914.3:c.7+25042T>C | NP_008845.2:n.7+25042T>C | |
NM_006914.4:c.7+25042T>C MANE Select | NP_008845.2:n.7+25042T>C |