HGVS | Genome Assembly |
---|---|
NC_000011.10:g.112086910G>A , CM000673.2:g.112086910G>A | GRCh38 |
NC_000011.9:g.111957634G>A , CM000673.1:g.111957634G>A | GRCh37 |
NC_000011.8:g.111462844G>A | NCBI36 |
NG_012337.2:g.5064G>A | |
NG_033145.1:g.4889C>T | |
NG_012337.3:g.5064G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000530923.6:c.3G>A | ENSP00000432946.2:p.Met1Ile | |
ENST00000534010.2:c.3G>A | ENSP00000433202.2:p.Met1Ile | |
ENST00000375549.8:c.3G>A MANE Select | ENSP00000364699.3:p.Met1Ile | |
ENST00000528021.6:c.3G>A | ENSP00000432465.1:p.Met1Ile | |
ENST00000640554.1:c.3G>A | ENSP00000491141.1:p.Met1Ile | |
ENST00000375549.7:c.3G>A | ENSP00000364699.3:p.Met1Ile | |
ENST00000525291.5:c.3G>A | ENSP00000436669.1:p.Met1Ile | |
ENST00000525987.5:n.8G>A | ||
ENST00000526592.5:c.3G>A | ENSP00000432005.1:p.Met1Ile | |
ENST00000528021.5:c.3G>A | ENSP00000432465.1:p.Met1Ile | |
ENST00000528048.5:c.3G>A | ENSP00000436217.1:p.Met1Ile | |
ENST00000528182.5:c.3G>A | ENSP00000435475.1:p.Met1Ile | |
ENST00000531744.5:c.3G>A | ENSP00000456957.1:p.Met1Ile | |
ENST00000532699.1:c.3G>A | ENSP00000456434.1:p.Met1Ile | |
ENST00000614349.4:c.3G>A | ENSP00000480666.1:p.Met1Ile | |
NM_001276503.1:c.3G>A | NP_001263432.1:p.Met1Ile | |
NM_001276504.1:c.3G>A | NP_001263433.1:p.Met1Ile | |
NM_001276506.1:c.3G>A | NP_001263435.1:p.Met1Ile | |
NM_003002.3:c.3G>A | NP_002993.1:p.Met1Ile | |
NR_077060.1:n.87G>A | ||
NM_003002.4:c.3G>A MANE Select | NP_002993.1:p.Met1Ile | |
NM_001276503.2:c.3G>A | NP_001263432.1:p.Met1Ile | |
NM_001276504.2:c.3G>A | NP_001263433.1:p.Met1Ile | |
NM_001276506.2:c.3G>A | NP_001263435.1:p.Met1Ile | |
NR_077060.2:n.38G>A |