HGVS | Genome Assembly |
---|---|
NC_000007.14:g.151187295A>G , CM000669.2:g.151187295A>G | GRCh38 |
NC_000007.13:g.150884382A>G , CM000669.1:g.150884382A>G | GRCh37 |
NC_000007.12:g.150515315A>G | NCBI36 |
NG_017016.1:g.5538T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000275838.5:c.-165T>C | ENSP00000275838.1:n.-165T>C | |
ENST00000377867.7:c.271+157T>C | ENSP00000367098.3:n.271+157T>C | |
ENST00000415615.1:c.*80T>C | ENSP00000410871.1:n.*80T>C | |
NM_001142459.1:c.-165T>C | NP_001135931.2:n.-165T>C | |
NM_001142460.1:c.-165T>C | NP_001135932.2:n.-165T>C | |
NM_080871.3:c.271+157T>C | NP_543147.2:n.271+157T>C | |
NM_080871.4:c.271+157T>C | NP_543147.2:n.271+157T>C |