HGVS | Genome Assembly |
---|---|
NC_000015.10:g.48516165T>C , CM000677.2:g.48516165T>C | GRCh38 |
NC_000015.9:g.48808362T>C , CM000677.1:g.48808362T>C | GRCh37 |
NC_000015.8:g.46595654T>C | NCBI36 |
NG_008805.2:g.134624A>G , LRG_778:g.134624A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000559133.6:c.1327+18A>G | ENSP00000453958.2:n.1327+18A>G | |
ENST00000674301.2:c.1327+18A>G | ENSP00000501333.2:n.1327+18A>G | |
ENST00000316623.10:c.1327+18A>G MANE Select | ENSP00000325527.5:n.1327+18A>G | |
ENST00000316623.9:c.1327+18A>G | ENSP00000325527.5:n.1327+18A>G | |
ENST00000537463.6:c.636+21546A>G | ENSP00000440294.2:n.636+21546A>G | |
NM_000138.4:c.1327+18A>G , LRG_778t1:c.1327+18A>G | NP_000129.3:n.1327+18A>G | |
NM_000138.5:c.1327+18A>G MANE Select | NP_000129.3:n.1327+18A>G |