Linked Data
ClinVar Variation Id:
1415069
ClinVar RCV Id:
RCV001945456
dbSNP Id:
rs2126765106
gnomAD v4:
5-132370139-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132370139C>T , CM000667.2:g.132370139C>T | GRCh38 |
| NC_000005.9:g.131705831C>T , CM000667.1:g.131705831C>T | GRCh37 |
| NC_000005.8:g.131733730C>T | NCBI36 |
| NG_008982.1:g.5431C>T | |
| NG_008982.2:g.5436C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415928.6:c.167C>T | ENSP00000388838.2:p.Ala56Val | |
| ENST00000435065.7:c.167C>T | ENSP00000402760.2:p.Ala56Val | |
| ENST00000448810.6:c.167C>T | ENSP00000401860.2:p.Ala56Val | |
| ENST00000686757.1:c.167C>T | ENSP00000510721.1:p.Ala56Val | |
| ENST00000687740.1:n.301C>T | ||
| ENST00000689271.1:c.167C>T | ENSP00000510797.1:p.Ala56Val | |
| ENST00000690900.1:c.167C>T | ENSP00000510703.1:p.Ala56Val | |
| ENST00000692413.1:c.167C>T | ENSP00000509374.1:p.Ala56Val | |
| ENST00000692825.1:c.167C>T | ENSP00000509447.1:p.Ala56Val | |
| ENST00000693308.1:c.167C>T | ENSP00000509770.1:p.Ala56Val | |
| ENST00000693763.1:n.301C>T | ||
| ENST00000245407.8:c.167C>T MANE Select | ENSP00000245407.3:p.Ala56Val | |
| ENST00000245407.7:c.167C>T | ENSP00000245407.3:p.Ala56Val | |
| ENST00000435065.6:c.167C>T | ENSP00000402760.2:p.Ala56Val | |
| ENST00000437841.6:c.167C>T | ENSP00000400553.1:p.Ala56Val | |
| NM_001308122.1:c.167C>T | NP_001295051.1:p.Ala56Val | |
| NM_003060.3:c.167C>T | NP_003051.1:p.Ala56Val | |
| XR_427718.1:n.436C>T | ||
| XR_948290.1:n.436C>T | ||
| XR_948291.1:n.436C>T | ||
| XM_011543590.2:c.-465C>T | XP_011541892.1:n.-465C>T | |
| XR_001742215.1:n.436C>T | ||
| XR_001742216.1:n.436C>T | ||
| XR_427718.2:n.436C>T | ||
| XR_948290.2:n.436C>T | ||
| XR_948291.2:n.436C>T | ||
| NM_003060.4:c.167C>T MANE Select | NP_003051.1:p.Ala56Val | |
| NM_001308122.2:c.167C>T | NP_001295051.1:p.Ala56Val |