HGVS | Genome Assembly |
---|---|
NC_000018.10:g.31542791C>G , CM000680.2:g.31542791C>G | GRCh38 |
NC_000018.9:g.29122754C>G , CM000680.1:g.29122754C>G | GRCh37 |
NC_000018.8:g.27376752C>G | NCBI36 |
NG_007072.3:g.49550C>G , LRG_397:g.49550C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261590.13:c.2273C>G (DSG2) MANE Select | ENSP00000261590.8:p.Ala758Gly | |
ENST00000261590.12:c.2273C>G (DSG2) | ENSP00000261590.8:p.Ala758Gly | |
NM_001943.3:c.2273C>G , LRG_397t1:c.2273C>G (DSG2) | NP_001934.2:p.Ala758Gly | |
NR_045216.1:n.1810+311G>C (DSG2-AS1) | ||
NM_001943.4:c.2273C>G (DSG2) | NP_001934.2:p.Ala758Gly | |
XM_024451095.1:c.1739C>G (DSG2) | XP_024306863.1:p.Ala580Gly | |
NM_001943.5:c.2273C>G (DSG2) MANE Select | NP_001934.2:p.Ala758Gly |