HGVS | Genome Assembly |
---|---|
NC_000020.11:g.33439032C>G , CM000682.2:g.33439032C>G | GRCh38 |
NC_000020.10:g.32026838C>G , CM000682.1:g.32026838C>G | GRCh37 |
NC_000020.9:g.31490499C>G | NCBI36 |
NG_011622.1:g.9861G>C , LRG_332:g.9861G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000217381.3:c.311-6G>C MANE Select | ENSP00000217381.2:n.311-6G>C | |
ENST00000217381.2:c.311-6G>C | ENSP00000217381.2:n.311-6G>C | |
NM_003098.2:c.311-6G>C , LRG_332t1:c.311-6G>C | NP_003089.1:n.311-6G>C | |
XM_005260517.1:c.311-6G>C | XP_005260574.1:n.311-6G>C | |
XM_011529007.1:c.311-6G>C | XP_011527309.1:n.311-6G>C | |
XM_011529008.1:c.311-6G>C | XP_011527310.1:n.311-6G>C | |
XR_936612.1:n.544-6G>C | ||
XM_024451971.1:c.-17-6G>C | XP_024307739.1:n.-17-6G>C | |
NM_003098.3:c.311-6G>C MANE Select | NP_003089.1:n.311-6G>C |