HGVS | Genome Assembly |
---|---|
NC_000002.12:g.188997438G>C , CM000664.2:g.188997438G>C | GRCh38 |
NC_000002.11:g.189862164G>C , CM000664.1:g.189862164G>C | GRCh37 |
NC_000002.10:g.189570409G>C | NCBI36 |
NG_007404.1:g.28066G>C , LRG_3:g.28066G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000450867.2:c.1770+49G>C | ENSP00000415346.2:n.1770+49G>C | |
ENST00000304636.9:c.1869+49G>C MANE Select | ENSP00000304408.4:n.1869+49G>C | |
ENST00000304636.7:c.1869+49G>C | ENSP00000304408.3:n.1869+49G>C | |
ENST00000317840.9:c.1869+49G>C | ENSP00000315243.6:n.1869+49G>C | |
NM_000090.3:c.1869+49G>C , LRG_3t1:c.1869+49G>C | NP_000081.1:n.1869+49G>C | |
NM_000090.4:c.1869+49G>C MANE Select | NP_000081.2:n.1869+49G>C |