HGVS | Genome Assembly |
---|---|
NC_000017.11:g.34285875G>C , CM000679.2:g.34285875G>C | GRCh38 |
NC_000017.10:g.32612894G>C , CM000679.1:g.32612894G>C | GRCh37 |
NC_000017.9:g.29637007G>C | NCBI36 |
NG_012212.1:g.5208G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000305869.4:c.67G>C MANE Select | ENSP00000302234.3:p.Ala23Pro | |
ENST00000305869.3:c.67G>C | ENSP00000302234.3:p.Ala23Pro | |
NM_002986.2:c.67G>C | NP_002977.1:p.Ala23Pro | |
NM_002986.3:c.67G>C MANE Select | NP_002977.1:p.Ala23Pro |