HGVS | Genome Assembly |
---|---|
NC_000001.11:g.171108154T>C , CM000663.2:g.171108154T>C | GRCh38 |
NC_000001.10:g.171077295T>C , CM000663.1:g.171077295T>C | GRCh37 |
NC_000001.9:g.169343919T>C | NCBI36 |
NG_012690.1:g.22278T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000367755.9:c.560T>C MANE Select | ENSP00000356729.4:p.Val187Ala | |
ENST00000367755.8:c.560T>C | ENSP00000356729.4:p.Val187Ala | |
ENST00000479749.1:c.506T>C | ENSP00000477451.1:p.Val169Ala | |
NM_001002294.2:c.560T>C | NP_001002294.1:p.Val187Ala | |
NM_006894.5:c.560T>C | NP_008825.4:p.Val187Ala | |
XM_005245044.1:c.371T>C | XP_005245101.1:p.Val124Ala | |
XM_011509345.1:c.500T>C | XP_011507647.1:p.Val167Ala | |
XM_011509346.1:c.500T>C | XP_011507648.1:p.Val167Ala | |
NM_001319173.1:c.500T>C | NP_001306102.1:p.Val167Ala | |
NM_001319174.1:c.371T>C | NP_001306103.1:p.Val124Ala | |
XM_011509345.3:c.500T>C | XP_011507647.1:p.Val167Ala | |
XM_024454365.1:c.13T>C | XP_024310133.1:p.Ser5Pro | |
NM_001002294.3:c.560T>C MANE Select | NP_001002294.1:p.Val187Ala | |
NM_001319173.2:c.500T>C | NP_001306102.1:p.Val167Ala | |
NM_001319174.2:c.371T>C | NP_001306103.1:p.Val124Ala | |
NM_006894.6:c.560T>C | NP_008825.4:p.Val187Ala |