HGVS | Genome Assembly |
---|---|
NC_000002.12:g.233618349G>A , CM000664.2:g.233618349G>A | GRCh38 |
NC_000002.11:g.234526995G>A , CM000664.1:g.234526995G>A | GRCh37 |
NC_000002.10:g.234191734G>A | NCBI36 |
NG_002601.2:g.33606G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000373450.5:c.642G>A MANE Select | ENSP00000362549.4:p.Leu214= | |
ENST00000373450.4:c.642G>A | ENSP00000362549.4:p.Leu214= | |
NM_019076.4:c.642G>A | NP_061949.3:p.Leu214= | |
NM_019076.5:c.642G>A MANE Select | NP_061949.3:p.Leu214= |