Linked Data
ClinVar Variation Id:
142601
ClinVar RCV Id:
RCV000131808
RCV000170328
RCV000148026
RCV000413945
RCV000722034
RCV000627791
RCV001089554
RCV001257553
RCV002478402
RCV003335126
RCV003474779
RCV001762318
RCV001799624
RCV003330507
dbSNP Id:
rs142441643
ExAC:
5:223624 C / T
gnomAD v2:
5-223624-C-T
gnomAD v3:
5-223509-C-T
gnomAD v4:
5-223509-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.223509C>T , CM000667.2:g.223509C>T | GRCh38 |
| NC_000005.9:g.223624C>T , CM000667.1:g.223624C>T | GRCh37 |
| NC_000005.8:g.276624C>T | NCBI36 |
| NG_012339.1:g.10269C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264932.11:c.91C>T MANE Select | ENSP00000264932.6:p.Arg31Ter | |
| ENST00000651543.1:c.91C>T | ENSP00000499215.1:p.Arg31Ter | |
| ENST00000264932.10:c.91C>T | ENSP00000264932.6:p.Arg31Ter | |
| ENST00000502379.5:n.136C>T | ||
| ENST00000504309.5:c.91C>T | ENSP00000426514.1:p.Arg31Ter | |
| ENST00000504824.5:n.76C>T | ||
| ENST00000505555.5:n.131C>T | ||
| ENST00000509632.5:c.189C>T | ENSP00000425077.1:p.Pro63= | |
| ENST00000510361.5:c.91C>T | ENSP00000427703.1:p.Arg31Ter | |
| ENST00000617470.4:c.91C>T | ENSP00000484230.1:p.Arg31Ter | |
| NM_001294332.1:c.91C>T | NP_001281261.1:p.Arg31Ter | |
| NM_004168.3:c.91C>T | NP_004159.2:p.Arg31Ter | |
| XM_005248331.2:c.91C>T | XP_005248388.1:p.Arg31Ter | |
| XM_011514072.1:c.91C>T | XP_011512374.1:p.Arg31Ter | |
| XM_011514073.1:c.91C>T | XP_011512375.1:p.Arg31Ter | |
| XR_925638.1:n.224C>T | ||
| NM_001330758.1:c.91C>T | NP_001317687.1:p.Arg31Ter | |
| XM_011514072.2:c.91C>T | XP_011512374.1:p.Arg31Ter | |
| XM_011514073.2:c.91C>T | XP_011512375.1:p.Arg31Ter | |
| XM_017009685.2:c.91C>T | XP_016865174.1:p.Arg31Ter | |
| XM_024446143.1:c.91C>T | XP_024301911.1:p.Arg31Ter | |
| XR_002956167.1:n.138C>T | ||
| NM_004168.4:c.91C>T MANE Select | NP_004159.2:p.Arg31Ter | |
| NM_001294332.2:c.91C>T | NP_001281261.1:p.Arg31Ter | |
| NM_001330758.2:c.91C>T | NP_001317687.1:p.Arg31Ter |