Linked Data
ClinVar Variation Id:
969132
ClinVar RCV Id:
RCV001244405
dbSNP Id:
rs750736847
ExAC:
8:42977893 T / C
gnomAD v2:
8-42977893-T-C
gnomAD v3:
8-43122750-T-C
gnomAD v4:
8-43122750-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.43122750T>C , CM000670.2:g.43122750T>C | GRCh38 |
| NC_000008.10:g.42977893T>C , CM000670.1:g.42977893T>C | GRCh37 |
| NC_000008.9:g.43097050T>C | NCBI36 |
| NG_033235.1:g.34245T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331373.10:c.926T>C MANE Select | ENSP00000331258.5:p.Ile309Thr | |
| ENST00000614426.2:c.*722T>C | ENSP00000478821.2:n.*722T>C | |
| ENST00000674646.1:c.644T>C | ENSP00000501703.1:p.Ile215Thr | |
| ENST00000674676.1:c.644T>C | ENSP00000502544.1:p.Ile215Thr | |
| ENST00000674782.1:c.*846T>C | ENSP00000501683.1:n.*846T>C | |
| ENST00000674937.1:c.884T>C | ENSP00000501823.1:p.Ile295Thr | |
| ENST00000675322.1:c.644T>C | ENSP00000502235.1:p.Ile215Thr | |
| ENST00000675675.1:c.644T>C | ENSP00000501793.1:p.Ile215Thr | |
| ENST00000676178.1:c.*711T>C | ENSP00000502007.1:n.*711T>C | |
| ENST00000676193.1:c.926T>C | ENSP00000502774.1:p.Ile309Thr | |
| ENST00000331373.9:c.926T>C | ENSP00000331258.5:p.Ile309Thr | |
| ENST00000614426.1:c.926T>C | ENSP00000478821.1:p.Ile309Thr | |
| NM_001277971.1:c.926T>C | NP_001264900.1:p.Ile309Thr | |
| NM_032237.4:c.926T>C | NP_115613.1:p.Ile309Thr | |
| XM_011544668.1:c.926T>C | XP_011542970.1:p.Ile309Thr | |
| XM_011544669.1:c.926T>C | XP_011542971.1:p.Ile309Thr | |
| NM_032237.5:c.926T>C MANE Select | NP_115613.1:p.Ile309Thr | |
| NM_001277971.2:c.926T>C | NP_001264900.1:p.Ile309Thr |