HGVS | Genome Assembly |
---|---|
NC_000002.12:g.85546588T>G , CM000664.2:g.85546588T>G | GRCh38 |
NC_000002.11:g.85773711T>G , CM000664.1:g.85773711T>G | GRCh37 |
NC_000002.10:g.85627222T>G | NCBI36 |
NG_011811.2:g.19947A>C | |
NG_029183.1:g.12611T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000233838.9:c.*3346A>C MANE Select | ENSP00000233838.3:n.*3346A>C | |
ENST00000233838.8:c.*3346A>C | ENSP00000233838.3:n.*3346A>C | |
NM_000821.5:c.*3346A>C | NP_000812.2:n.*3346A>C | |
NM_000821.6:c.*3346A>C | NP_000812.2:n.*3346A>C | |
NM_001142269.2:c.*3346A>C | NP_001135741.1:n.*3346A>C | |
NM_001142269.3:c.*3346A>C | NP_001135741.1:n.*3346A>C | |
NM_000821.7:c.*3346A>C MANE Select | NP_000812.2:n.*3346A>C | |
NM_001142269.4:c.*3346A>C | NP_001135741.1:n.*3346A>C |