HGVS | Genome Assembly |
---|---|
NC_000007.14:g.21543451T>C , CM000669.2:g.21543451T>C | GRCh38 |
NC_000007.13:g.21583069T>C , CM000669.1:g.21583069T>C | GRCh37 |
NC_000007.12:g.21549594T>C | NCBI36 |
NG_012886.2:g.5237T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000409508.8:c.206T>C MANE Select | ENSP00000475939.1:p.Met69Thr | |
ENST00000328843.10:c.206T>C | ENSP00000330671.7:p.Met69Thr | |
ENST00000409508.7:c.206T>C | ENSP00000475939.1:p.Met69Thr | |
ENST00000607050.1:n.6T>C | ||
ENST00000620169.4:c.206T>C | ENSP00000481693.1:p.Met69Thr | |
NM_001277115.1:c.206T>C | NP_001264044.1:p.Met69Thr | |
NM_001277115.2:c.206T>C MANE Select | NP_001264044.1:p.Met69Thr |