Linked Data
ClinVar Variation Id:
300446
dbSNP Id:
rs756919394
ExAC:
10:73545402 T / C
gnomAD v2:
10-73545402-T-C
gnomAD v3:
10-71785645-T-C
gnomAD v4:
10-71785645-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71785645T>C , CM000672.2:g.71785645T>C | GRCh38 |
| NC_000010.10:g.73545402T>C , CM000672.1:g.73545402T>C | GRCh37 |
| NC_000010.9:g.73215408T>C | NCBI36 |
| NG_008835.1:g.393699T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.5727T>C MANE Select | ENSP00000224721.9:p.Thr1909= | |
| ENST00000224721.10:c.5742T>C | ENSP00000224721.8:p.Thr1914= | |
| ENST00000622827.4:c.5727T>C | ENSP00000483211.1:p.Thr1909= | |
| NM_022124.5:c.5727T>C | NP_071407.4:p.Thr1909= | |
| XM_006717940.2:c.5922T>C | XP_006718003.1:p.Thr1974= | |
| XM_006717942.2:c.5856T>C | XP_006718005.1:p.Thr1952= | |
| XM_011540039.1:c.5919T>C | XP_011538341.1:p.Thr1973= | |
| XM_011540040.1:c.5916T>C | XP_011538342.1:p.Thr1972= | |
| XM_011540041.1:c.5862T>C | XP_011538343.1:p.Thr1954= | |
| XM_011540042.1:c.5922T>C | XP_011538344.1:p.Thr1974= | |
| XM_011540043.1:c.5922T>C | XP_011538345.1:p.Thr1974= | |
| XM_011540044.1:c.5787T>C | XP_011538346.1:p.Thr1929= | |
| XM_011540045.1:c.5922T>C | XP_011538347.1:p.Thr1974= | |
| XM_011540046.1:c.5382T>C | XP_011538348.1:p.Thr1794= | |
| XM_011540047.1:c.4740T>C | XP_011538349.1:p.Thr1580= | |
| XM_011540048.1:c.5922T>C | XP_011538350.1:p.Thr1974= | |
| XM_011540049.1:c.5922T>C | XP_011538351.1:p.Thr1974= | |
| XM_011540050.1:c.5922T>C | XP_011538352.1:p.Thr1974= | |
| XM_011540051.1:c.5922T>C | XP_011538353.1:p.Thr1974= | |
| XM_011540052.1:c.2250T>C | XP_011538354.1:p.Thr750= | |
| XM_011540053.1:c.5922T>C | XP_011538355.1:p.Thr1974= | |
| XR_945796.1:n.6165T>C | ||
| NM_022124.6:c.5727T>C MANE Select | NP_071407.4:p.Thr1909= |