HGVS | Genome Assembly |
---|---|
NC_000008.11:g.19939443G>C , CM000670.2:g.19939443G>C | GRCh38 |
NC_000008.10:g.19796954G>C , CM000670.1:g.19796954G>C | GRCh37 |
NC_000008.9:g.19841234G>C | NCBI36 |
NG_008855.1:g.5373G>C | |
NG_008855.2:g.42727G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000650287.1:c.3G>C MANE Select | ENSP00000497642.1:p.Met1Ile | |
ENST00000311322.8:c.3G>C | ENSP00000309757.6:p.Met1Ile | |
ENST00000519773.1:c.3G>C | ENSP00000431028.1:p.Met1Ile | |
ENST00000520959.5:c.-140-8737G>C | ENSP00000428496.1:n.-140-8737G>C | |
ENST00000521994.1:n.188G>C | ||
ENST00000522701.5:c.3G>C | ENSP00000428557.1:p.Met1Ile | |
ENST00000523696.1:n.72G>C | ||
ENST00000524029.5:c.3G>C | ENSP00000428237.1:p.Met1Ile | |
NM_000237.2:c.3G>C | NP_000228.1:p.Met1Ile | |
NM_000237.3:c.3G>C MANE Select | NP_000228.1:p.Met1Ile |