Linked Data
ClinVar Variation Id:
366966
ClinVar RCV Id:
RCV001064048
dbSNP Id:
rs755658263
ExAC:
9:399159 C / T
gnomAD v2:
9-399159-C-T
gnomAD v3:
9-399159-C-T
gnomAD v4:
9-399159-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.399159C>T , CM000671.2:g.399159C>T | GRCh38 |
| NC_000009.11:g.399159C>T , CM000671.1:g.399159C>T | GRCh37 |
| NC_000009.10:g.389159C>T | NCBI36 |
| NG_017007.1:g.189295C>T , LRG_196:g.189295C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382329.2:c.2834C>T | ENSP00000371766.2:p.Ala945Val | |
| ENST00000382331.6:n.1631C>T | ||
| ENST00000682260.1:n.3030C>T | ||
| ENST00000685949.1:n.1922C>T | ||
| ENST00000432829.7:c.3134C>T MANE Select | ENSP00000394888.3:p.Ala1045Val | |
| ENST00000382329.1:c.1535C>T | ENSP00000371766.1:p.Ala512Val | |
| ENST00000382331.5:c.1040C>T | ENSP00000371768.1:p.Ala347Val | |
| ENST00000432829.6:c.3134C>T | ENSP00000394888.3:p.Ala1045Val | |
| ENST00000453981.5:c.2930C>T | ENSP00000408464.2:p.Ala977Val | |
| ENST00000469391.5:c.2834C>T | ENSP00000419438.1:p.Ala945Val | |
| ENST00000495184.5:n.5089C>T | ||
| NM_001190458.1:c.2834C>T | NP_001177387.1:p.Ala945Val | |
| NM_001193536.1:c.2930C>T | NP_001180465.1:p.Ala977Val | |
| NM_203447.3:c.3134C>T , LRG_196t1:c.3134C>T | NP_982272.2:p.Ala1045Val | |
| XM_011518045.1:c.2834C>T | XP_011516347.1:p.Ala945Val | |
| XM_011518046.1:c.2996C>T | XP_011516348.1:p.Ala999Val | |
| XM_011518047.1:c.2930C>T | XP_011516349.1:p.Ala977Val | |
| XM_011518048.1:c.2930C>T | XP_011516350.1:p.Ala977Val | |
| XM_011518049.1:c.1370C>T | XP_011516351.1:p.Ala457Val | |
| XM_011518045.3:c.2834C>T | XP_011516347.1:p.Ala945Val | |
| XM_011518046.2:c.2996C>T | XP_011516348.1:p.Ala999Val | |
| XM_011518047.3:c.2930C>T | XP_011516349.1:p.Ala977Val | |
| XM_011518048.2:c.2930C>T | XP_011516350.1:p.Ala977Val | |
| XM_011518049.2:c.1370C>T | XP_011516351.1:p.Ala457Val | |
| XM_017015173.1:c.2930C>T | XP_016870662.1:p.Ala977Val | |
| XM_017015174.1:c.2996C>T | XP_016870663.1:p.Ala999Val | |
| NM_001190458.2:c.2834C>T | NP_001177387.1:p.Ala945Val | |
| NM_001193536.2:c.2930C>T | NP_001180465.1:p.Ala977Val | |
| NM_203447.4:c.3134C>T MANE Select | NP_982272.2:p.Ala1045Val |