HGVS | Genome Assembly |
---|---|
NC_000001.11:g.161314408G>A , CM000663.2:g.161314408G>A | GRCh38 |
NC_000001.10:g.161284198G>A , CM000663.1:g.161284198G>A | GRCh37 |
NC_000001.9:g.159550822G>A | NCBI36 |
NG_008055.1:g.565C>T , LRG_256:g.565C>T | |
NG_012767.1:g.5033G>A , LRG_317:g.5033G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000470743.5:c.3G>A | ENSP00000482902.2:p.Met1Ile | |
ENST00000367975.7:c.3G>A MANE Select | ENSP00000356953.3:p.Met1Ile | |
ENST00000342751.8:c.3G>A | ENSP00000356952.3:p.Met1Ile | |
ENST00000367975.6:c.3G>A | ENSP00000356953.2:p.Met1Ile | |
ENST00000392169.6:c.3G>A | ENSP00000376009.2:p.Met1Ile | |
ENST00000432287.6:c.3G>A | ENSP00000390558.2:p.Met1Ile | |
ENST00000504963.5:c.3G>A | ENSP00000423929.1:p.Met1Ile | |
ENST00000513009.5:c.3G>A | ENSP00000423260.1:p.Met1Ile | |
ENST00000515731.1:n.28G>A | ||
NM_001035511.1:c.3G>A | NP_001030588.1:p.Met1Ile | |
NM_001035512.1:c.3G>A | NP_001030589.1:p.Met1Ile | |
NM_001035513.1:c.3G>A | NP_001030590.1:p.Met1Ile | |
NM_001278172.1:c.3G>A | NP_001265101.1:p.Met1Ile | |
NM_003001.3:c.3G>A , LRG_317t1:c.3G>A | NP_002992.1:p.Met1Ile | |
NR_103459.1:n.33G>A | ||
NM_001035511.2:c.3G>A | NP_001030588.1:p.Met1Ile | |
NM_001035512.2:c.3G>A | NP_001030589.1:p.Met1Ile | |
NM_001035513.2:c.3G>A | NP_001030590.1:p.Met1Ile | |
NM_001278172.2:c.3G>A | NP_001265101.1:p.Met1Ile | |
NM_003001.5:c.3G>A MANE Select | NP_002992.1:p.Met1Ile | |
NR_103459.2:n.28G>A |