HGVS | Genome Assembly |
---|---|
NC_000006.12:g.52186434G>C , CM000668.2:g.52186434G>C | GRCh38 |
NC_000006.11:g.52051232G>C , CM000668.1:g.52051232G>C | GRCh37 |
NC_000006.10:g.52159191G>C | NCBI36 |
NG_033021.1:g.5048G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000648244.1:c.3G>C MANE Select | ENSP00000497968.1:p.Met1Ile | |
ENST00000340057.1:c.3G>C | ENSP00000344192.1:p.Met1Ile | |
NM_002190.2:c.3G>C | NP_002181.1:p.Met1Ile | |
NM_002190.3:c.3G>C MANE Select | NP_002181.1:p.Met1Ile |