Linked Data
ClinVar Variation Id:
198833
dbSNP Id:
rs200689545
ExAC:
16:31122058 T / C
gnomAD v2:
16-31122058-T-C
gnomAD v3:
16-31110737-T-C
gnomAD v4:
16-31110737-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31110737T>C , CM000678.2:g.31110737T>C | GRCh38 |
| NC_000016.9:g.31122058T>C , CM000678.1:g.31122058T>C | GRCh37 |
| NC_000016.8:g.31029559T>C | NCBI36 |
| NG_033011.1:g.7444T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219794.11:c.692T>C MANE Select | ENSP00000219794.6:p.Ile231Thr | |
| ENST00000219794.10:c.692T>C | ENSP00000219794.6:p.Ile231Thr | |
| ENST00000287507.7:c.692T>C | ENSP00000287507.3:p.Ile231Thr | |
| ENST00000394950.7:c.692T>C | ENSP00000378404.3:p.Ile231Thr | |
| ENST00000394951.5:c.692T>C | ENSP00000378405.1:p.Ile231Thr | |
| ENST00000566568.1:n.1381T>C | ||
| ENST00000567530.5:c.642+238T>C | ENSP00000456479.1:n.642+238T>C | |
| NM_001122957.2:c.692T>C | NP_001116429.1:p.Ile231Thr | |
| NM_001271926.1:c.692T>C | NP_001258855.1:p.Ile231Thr | |
| NM_005881.3:c.692T>C | NP_005872.2:p.Ile231Thr | |
| XM_017022859.1:c.692T>C | XP_016878348.1:p.Ile231Thr | |
| NM_005881.4:c.692T>C MANE Select | NP_005872.2:p.Ile231Thr | |
| NM_001122957.3:c.692T>C | NP_001116429.1:p.Ile231Thr | |
| NM_001271926.2:c.692T>C | NP_001258855.1:p.Ile231Thr | |
| NM_001122957.4:c.692T>C | NP_001116429.1:p.Ile231Thr | |
| NM_001271926.3:c.692T>C | NP_001258855.1:p.Ile231Thr |