HGVS | Genome Assembly |
---|---|
NC_000009.12:g.69035785G>T , CM000671.2:g.69035785G>T | GRCh38 |
NC_000009.11:g.71650701G>T , CM000671.1:g.71650701G>T | GRCh37 |
NC_000009.10:g.70840521G>T | NCBI36 |
NG_008845.2:g.5223G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000484259.3:c.3G>T MANE Select | ENSP00000419243.2:p.Met1Ile | |
ENST00000642330.1:c.3G>T | ENSP00000493770.1:p.Met1Ile | |
ENST00000642889.1:c.3G>T | ENSP00000493780.1:p.Met1Ile | |
ENST00000643352.1:c.3G>T | ENSP00000496488.1:p.Met1Ile | |
ENST00000643765.1:c.1G>T | ||
ENST00000644653.1:c.3G>T | ENSP00000495217.1:p.Met1Ile | |
ENST00000644977.1:c.3G>T | ENSP00000495651.1:p.Met1Ile | |
ENST00000645088.1:c.3G>T | ENSP00000495447.1:p.Met1Ile | |
ENST00000646862.1:c.3G>T | ENSP00000494599.1:p.Met1Ile | |
ENST00000377270.7:c.3G>T | ENSP00000366482.3:p.Met1Ile | |
ENST00000396364.7:c.3G>T | ENSP00000379650.3:p.Met1Ile | |
ENST00000396366.6:c.3G>T | ENSP00000379652.2:p.Met1Ile | |
NM_000144.4:c.3G>T | NP_000135.2:p.Met1Ile | |
NM_001161706.1:c.3G>T | NP_001155178.1:p.Met1Ile | |
NM_181425.2:c.3G>T | NP_852090.1:p.Met1Ile | |
NM_000144.5:c.3G>T MANE Select | NP_000135.2:p.Met1Ile | |
NM_181425.3:c.3G>T | NP_852090.1:p.Met1Ile |