HGVS | Genome Assembly |
---|---|
NC_000002.12:g.189575160C>G , CM000664.2:g.189575160C>G | GRCh38 |
NC_000002.11:g.190439886C>G , CM000664.1:g.190439886C>G | GRCh37 |
NC_000002.10:g.190148131C>G | NCBI36 |
NG_009027.1:g.10652G>C , LRG_837:g.10652G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261024.7:c.271+1G>C MANE Select | ENSP00000261024.3:n.271+1G>C | |
ENST00000261024.6:c.271+1G>C | ENSP00000261024.2:n.271+1G>C | |
ENST00000427241.5:c.271+1G>C | ENSP00000390005.1:n.271+1G>C | |
ENST00000479598.5:n.552+1G>C | ||
NM_014585.5:c.271+1G>C , LRG_837t1:c.271+1G>C | NP_055400.1:n.271+1G>C | |
XM_005246505.1:c.151+1G>C | XP_005246562.1:n.151+1G>C | |
XM_005246505.2:c.151+1G>C | XP_005246562.1:n.151+1G>C | |
XM_017003938.2:c.151+1G>C | XP_016859427.1:n.151+1G>C | |
NM_014585.6:c.271+1G>C MANE Select | NP_055400.1:n.271+1G>C |