HGVS | Genome Assembly |
---|---|
NC_000023.11:g.151181306G>C , CM000685.2:g.151181306G>C | GRCh38 |
NC_000023.10:g.150349778G>C , CM000685.1:g.150349778G>C | GRCh37 |
NC_000023.9:g.150100436G>C | NCBI36 |
NG_016405.1:g.9723G>C | |
NG_016405.2:g.9723G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000218316.4:c.1723G>C MANE Select | ENSP00000218316.3:p.Ala575Pro | |
ENST00000218316.3:c.1723G>C | ENSP00000218316.3:p.Ala575Pro | |
ENST00000617907.1:c.1717G>C | ENSP00000484496.1:p.Ala573Pro | |
NM_004224.3:c.1723G>C MANE Select | NP_004215.2:p.Ala575Pro | |
XM_011531216.1:c.982G>C | XP_011529518.1:p.Ala328Pro | |
XM_011531216.2:c.982G>C | XP_011529518.1:p.Ala328Pro |