HGVS | Genome Assembly |
---|---|
NC_000015.10:g.34793552C>A , CM000677.2:g.34793552C>A | GRCh38 |
NC_000015.9:g.35085753C>A , CM000677.1:g.35085753C>A | GRCh37 |
NC_000015.8:g.32873045C>A | NCBI36 |
NG_007553.1:g.7175G>T , LRG_388:g.7175G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000560563.2:n.253G>T (ACTC1) | ||
ENST00000290378.6:c.147G>T (ACTC1) MANE Select | ENSP00000290378.4:p.Met49Ile | |
ENST00000647798.1:n.294G>T (ACTC1) | ||
ENST00000648556.1:n.304G>T (ACTC1) | ||
ENST00000650163.1:n.227G>T (ACTC1) | ||
ENST00000290378.4:c.147G>T (ACTC1) | ENSP00000290378.4:p.Met49Ile | |
NM_005159.4:c.147G>T , LRG_388t1:c.147G>T (ACTC1) | NP_005150.1:p.Met49Ile | |
NR_120329.1:n.299+16121C>A (GJD2-DT) | ||
NM_005159.5:c.147G>T (ACTC1) MANE Select | NP_005150.1:p.Met49Ile |