Linked Data
dbSNP Id:
rs1390970728
gnomAD v2:
11-6415446-T-C
gnomAD v3:
11-6394216-T-C
gnomAD v4:
11-6394216-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6394216T>C , CM000673.2:g.6394216T>C | GRCh38 |
| NC_000011.9:g.6415446T>C , CM000673.1:g.6415446T>C | GRCh37 |
| NC_000011.8:g.6372022T>C | NCBI36 |
| NG_011780.1:g.8792T>C | |
| NG_029615.1:g.30199A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342245.9:c.1505T>C MANE Select | ENSP00000340409.4:p.Ile502Thr | |
| ENST00000342245.8:c.1505T>C | ENSP00000340409.4:p.Ile502Thr | |
| ENST00000526280.1:c.562T>C | ||
| ENST00000527275.5:c.1502T>C | ENSP00000435350.1:p.Ile501Thr | |
| ENST00000531303.5:c.*356T>C | ENSP00000432625.1:n.*356T>C | |
| ENST00000531336.1:n.493T>C | ||
| ENST00000533123.5:c.*232T>C | ENSP00000435950.1:n.*232T>C | |
| ENST00000534405.5:c.*336T>C | ENSP00000434353.1:n.*336T>C | |
| NM_000543.4:c.1505T>C | NP_000534.3:p.Ile502Thr | |
| NM_001007593.2:c.1502T>C | NP_001007594.2:p.Ile501Thr | |
| XM_005253075.3:c.1525T>C | XP_005253132.1:p.Ter509Gln | |
| XM_011520303.1:c.1373T>C | XP_011518605.1:p.Ile458Thr | |
| XM_011520304.1:c.1393T>C | XP_011518606.1:p.Ter465Gln | |
| NM_001318087.1:c.1525T>C | NP_001305016.1:p.Ter509Gln | |
| NM_001318088.1:c.584T>C | NP_001305017.1:p.Ile195Thr | |
| NM_001365135.1:c.1373T>C | NP_001352064.1:p.Ile458Thr | |
| NR_027400.2:n.1518T>C | ||
| NR_134502.1:n.1057T>C | ||
| XM_011520304.2:c.1393T>C | XP_011518606.1:p.Ter465Gln | |
| XR_001747940.2:n.1690T>C | ||
| XR_002957158.1:n.1872T>C | ||
| NM_000543.5:c.1505T>C MANE Select | NP_000534.3:p.Ile502Thr | |
| NM_001007593.3:c.1502T>C | NP_001007594.2:p.Ile501Thr | |
| NM_001318087.2:c.1525T>C | NP_001305016.1:p.Ter509Gln | |
| NM_001318088.2:c.584T>C | NP_001305017.1:p.Ile195Thr | |
| NM_001365135.2:c.1373T>C | NP_001352064.1:p.Ile458Thr | |
| NR_027400.3:n.1458T>C | ||
| NR_134502.2:n.997T>C |