HGVS | Genome Assembly |
---|---|
NC_000020.11:g.33408901C>G , CM000682.2:g.33408901C>G | GRCh38 |
NC_000020.10:g.31996707C>G , CM000682.1:g.31996707C>G | GRCh37 |
NC_000020.9:g.31460368C>G | NCBI36 |
NG_011622.1:g.39992G>C , LRG_332:g.39992G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000217381.3:c.1238-13G>C MANE Select | ENSP00000217381.2:n.1238-13G>C | |
ENST00000217381.2:c.1238-13G>C | ENSP00000217381.2:n.1238-13G>C | |
NM_003098.2:c.1238-13G>C , LRG_332t1:c.1238-13G>C | NP_003089.1:n.1238-13G>C | |
XM_005260517.1:c.1238-13G>C | XP_005260574.1:n.1238-13G>C | |
XM_011529007.1:c.1270-13G>C | XP_011527309.1:n.1270-13G>C | |
XM_011529008.1:c.1270-13G>C | XP_011527310.1:n.1270-13G>C | |
XR_936612.1:n.1274-13G>C | ||
XM_024451971.1:c.911-13G>C | XP_024307739.1:n.911-13G>C | |
NM_003098.3:c.1238-13G>C MANE Select | NP_003089.1:n.1238-13G>C |