HGVS | Genome Assembly |
---|---|
NC_000006.12:g.33005724C>G , CM000668.2:g.33005724C>G | GRCh38 |
NC_000006.11:g.32973501C>G , CM000668.1:g.32973501C>G | GRCh37 |
NC_000006.10:g.33081479C>G | NCBI36 |
NG_012007.1:g.8889G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000229829.7:c.*1114G>C MANE Select | ENSP00000229829.3:n.*1114G>C | |
ENST00000229829.6:c.*1114G>C | ENSP00000229829.3:n.*1114G>C | |
NM_002119.3:c.*1114G>C | NP_002110.1:n.*1114G>C | |
NM_002119.4:c.*1114G>C MANE Select | NP_002110.1:n.*1114G>C |