HGVS | Genome Assembly |
---|---|
NC_000007.14:g.107704383A>C , CM000669.2:g.107704383A>C | GRCh38 |
NC_000007.13:g.107344828A>C , CM000669.1:g.107344828A>C | GRCh37 |
NC_000007.12:g.107132064A>C | NCBI36 |
NG_008489.1:g.48749A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000644269.2:c.2087A>C MANE Select | ENSP00000494017.1:p.Gln696Pro | |
ENST00000644846.1:c.745+2326A>C | ||
ENST00000265715.7:c.2087A>C | ENSP00000265715.3:p.Gln696Pro | |
ENST00000492030.2:n.374A>C | ||
NM_000441.1:c.2087A>C | NP_000432.1:p.Gln696Pro | |
XM_005250425.1:c.2087A>C | XP_005250482.1:p.Gln696Pro | |
XM_005250425.2:c.2087A>C | XP_005250482.1:p.Gln696Pro | |
XM_017012318.1:c.2009A>C | XP_016867807.1:p.Gln670Pro | |
NM_000441.2:c.2087A>C MANE Select | NP_000432.1:p.Gln696Pro |