HGVS | Genome Assembly |
---|---|
NC_000007.14:g.94426199G>C , CM000669.2:g.94426199G>C | GRCh38 |
NC_000007.13:g.94055511G>C , CM000669.1:g.94055511G>C | GRCh37 |
NC_000007.12:g.93893447G>C | NCBI36 |
NG_007405.1:g.36639G>C , LRG_2:g.36639G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000297268.11:c.2997+148G>C MANE Select | ENSP00000297268.6:n.2997+148G>C | |
ENST00000297268.10:c.2997+148G>C | ENSP00000297268.6:n.2997+148G>C | |
ENST00000478215.1:n.556+148G>C | ||
ENST00000481570.5:n.2970+148G>C | ||
ENST00000620463.1:c.2991+148G>C | ENSP00000477719.1:n.2991+148G>C | |
NM_000089.3:c.2997+148G>C , LRG_2t1:c.2997+148G>C | NP_000080.2:n.2997+148G>C | |
NM_000089.4:c.2997+148G>C MANE Select | NP_000080.2:n.2997+148G>C |