Linked Data
dbSNP Id:
rs771035775
ExAC:
16:9858690 A / G
gnomAD v2:
16-9858690-A-G
gnomAD v4:
16-9764833-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.9764833A>G , CM000678.2:g.9764833A>G | GRCh38 |
| NC_000016.9:g.9858690A>G , CM000678.1:g.9858690A>G | GRCh37 |
| NC_000016.8:g.9766191A>G | NCBI36 |
| NG_011812.1:g.422922T>C | |
| NG_011812.2:g.422922T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330684.4:c.2711T>C MANE Select | ENSP00000332549.3:p.Ile904Thr | |
| ENST00000535259.6:c.2240T>C | ENSP00000441572.3:p.Ile747Thr | |
| ENST00000636273.2:n.2304T>C | ||
| ENST00000674742.1:c.2240T>C | ENSP00000502200.1:p.Ile747Thr | |
| ENST00000675398.1:c.*81T>C | ENSP00000502752.1:n.*81T>C | |
| ENST00000330684.3:c.2711T>C | ENSP00000332549.3:p.Ile904Thr | |
| ENST00000396573.6:c.2711T>C | ENSP00000379818.2:p.Ile904Thr | |
| ENST00000396575.6:c.2300T>C | ENSP00000379820.3:p.Ile767Thr | |
| ENST00000461292.3:n.2350T>C | ||
| ENST00000535259.5:c.2300T>C | ENSP00000441572.2:p.Ile767Thr | |
| ENST00000562109.5:c.2711T>C | ENSP00000454998.1:p.Ile904Thr | |
| NM_000833.4:c.2711T>C | NP_000824.1:p.Ile904Thr | |
| NM_001134407.2:c.2711T>C | NP_001127879.1:p.Ile904Thr | |
| NM_001134408.2:c.2711T>C | NP_001127880.1:p.Ile904Thr | |
| XM_011522456.1:c.2552T>C | XP_011520758.1:p.Ile851Thr | |
| XM_011522457.1:c.2453T>C | XP_011520759.1:p.Ile818Thr | |
| XM_011522458.1:c.2240T>C | XP_011520760.1:p.Ile747Thr | |
| XM_011522459.1:c.2240T>C | XP_011520761.1:p.Ile747Thr | |
| XM_011522460.1:c.2240T>C | XP_011520762.1:p.Ile747Thr | |
| XM_011522461.1:c.2711T>C | XP_011520763.1:p.Ile904Thr | |
| XM_011522458.3:c.2240T>C | XP_011520760.1:p.Ile747Thr | |
| XM_011522461.3:c.2711T>C | XP_011520763.1:p.Ile904Thr | |
| XM_017023172.1:c.2867T>C | XP_016878661.1:p.Ile956Thr | |
| XM_017023173.1:c.2867T>C | XP_016878662.1:p.Ile956Thr | |
| NM_001134407.3:c.2711T>C MANE Select | NP_001127879.1:p.Ile904Thr | |
| NM_000833.5:c.2711T>C | NP_000824.1:p.Ile904Thr |