HGVS | Genome Assembly |
---|---|
NC_000005.10:g.14741841C>G , CM000667.2:g.14741841C>G | GRCh38 |
NC_000005.9:g.14741950C>G , CM000667.1:g.14741950C>G | GRCh37 |
NC_000005.8:g.14794950C>G | NCBI36 |
NG_008273.1:g.134938G>C | |
NG_008273.2:g.134945G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000284268.8:c.997G>C MANE Select | ENSP00000284268.6:p.Ala333Pro | |
ENST00000284268.6:c.997G>C | ENSP00000284268.6:p.Ala333Pro | |
ENST00000503939.5:n.509G>C | ||
ENST00000515517.1:n.231G>C | ||
NM_054027.4:c.997G>C | NP_473368.1:p.Ala333Pro | |
XM_011514067.1:c.997G>C | XP_011512369.1:p.Ala333Pro | |
NM_054027.5:c.997G>C | NP_473368.1:p.Ala333Pro | |
XM_017009644.2:c.913G>C | XP_016865133.1:p.Ala305Pro | |
NM_054027.6:c.997G>C MANE Select | NP_473368.1:p.Ala333Pro |