Linked Data
ClinVar Variation Id:
4103
dbSNP Id:
rs121908073
ExAC:
9:75309494 C / T
gnomAD v2:
9-75309494-C-T
gnomAD v3:
9-72694578-C-T
gnomAD v4:
9-72694578-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.72694578C>T , CM000671.2:g.72694578C>T | GRCh38 |
| NC_000009.11:g.75309494C>T , CM000671.1:g.75309494C>T | GRCh37 |
| NC_000009.10:g.74499314C>T | NCBI36 |
| NG_008213.1:g.177778C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000297784.10:c.100C>T MANE Select | ENSP00000297784.6:p.Arg34Ter | |
| ENST00000644967.1:c.-213C>T | ENSP00000496159.1:n.-213C>T | |
| ENST00000645053.1:c.-213C>T | ENSP00000493838.1:n.-213C>T | |
| ENST00000645208.2:c.100C>T | ENSP00000494684.1:p.Arg34Ter | |
| ENST00000645773.1:c.100C>T | ENSP00000493698.1:p.Arg34Ter | |
| ENST00000645787.1:n.140C>T | ||
| ENST00000646244.1:n.550C>T | ||
| ENST00000646619.1:c.-213C>T | ENSP00000493726.1:n.-213C>T | |
| ENST00000650689.1:n.524C>T | ||
| ENST00000651183.1:c.-213C>T | ENSP00000498723.1:n.-213C>T | |
| ENST00000297784.9:c.100C>T | ENSP00000297784.5:p.Arg34Ter | |
| ENST00000340019.4:c.100C>T | ENSP00000341433.3:p.Arg34Ter | |
| NM_138691.2:c.100C>T | NP_619636.2:p.Arg34Ter | |
| XM_011518213.1:c.688C>T | XP_011516515.1:p.Arg230Ter | |
| XM_017014256.1:c.103C>T | XP_016869745.1:p.Arg35Ter | |
| NM_138691.3:c.100C>T MANE Select | NP_619636.2:p.Arg34Ter |