Linked Data
dbSNP Id:
rs142130255
gnomAD v2:
10-127477354-C-T
gnomAD v3:
10-125788785-C-T
gnomAD v4:
10-125788785-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.125788785C>T , CM000672.2:g.125788785C>T | GRCh38 |
| NC_000010.10:g.127477354C>T , CM000672.1:g.127477354C>T | GRCh37 |
| NC_000010.9:g.127467344C>T | NCBI36 |
| NG_011557.1:g.39484G>A | |
| NG_011557.2:g.39484G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000713579.1:c.*83G>A | ENSP00000518871.1:n.*83G>A | |
| ENST00000368797.10:c.*83G>A MANE Select | ENSP00000357787.4:n.*83G>A | |
| ENST00000465577.6:c.901G>A | ||
| ENST00000648427.1:c.*879G>A | ENSP00000497909.1:n.*879G>A | |
| ENST00000649536.1:c.*83G>A | ENSP00000497817.1:n.*83G>A | |
| ENST00000650472.1:n.3267G>A | ||
| ENST00000650524.1:c.794G>A | ENSP00000498108.1:n.794G>A | |
| ENST00000650587.1:c.*83G>A | ENSP00000497366.1:n.*83G>A | |
| ENST00000368786.5:c.*83G>A | ENSP00000357775.1:n.*83G>A | |
| ENST00000368797.8:c.*83G>A | ENSP00000357787.4:n.*83G>A | |
| ENST00000464267.1:n.978G>A | ||
| ENST00000465577.5:n.523G>A | ||
| ENST00000470483.1:n.569G>A | ||
| ENST00000484541.5:n.654G>A | ||
| ENST00000616800.4:c.161-3525G>A | ||
| ENST00000622016.4:c.241-2946G>A | ENSP00000483041.1:n.241-2946G>A | |
| NM_000375.2:c.*83G>A | NP_000366.1:n.*83G>A | |
| XM_005270137.2:c.*83G>A | XP_005270194.1:n.*83G>A | |
| XM_005270138.2:c.*83G>A | XP_005270195.1:n.*83G>A | |
| XM_005270139.2:c.661-2946G>A | XP_005270196.1:n.661-2946G>A | |
| XM_006717960.2:c.*83G>A | XP_006718023.1:n.*83G>A | |
| XM_011540127.1:c.661-3525G>A | XP_011538429.1:n.661-3525G>A | |
| XR_246103.2:n.1061G>A | ||
| XR_945810.1:n.1291G>A | ||
| NM_000375.3:c.*83G>A MANE Select | NP_000366.1:n.*83G>A | |
| NM_001324036.1:c.*83G>A | NP_001310965.1:n.*83G>A | |
| NM_001324037.1:c.*83G>A | NP_001310966.1:n.*83G>A | |
| NM_001324038.1:c.*83G>A | NP_001310967.1:n.*83G>A | |
| NR_136675.1:n.966G>A | ||
| NR_136676.1:n.1393G>A | ||
| NR_136677.1:n.927-2946G>A | ||
| NR_136678.1:n.877G>A | ||
| XM_011540127.2:c.661-3525G>A | XP_011538429.1:n.661-3525G>A | |
| XM_017016611.2:c.*83G>A | XP_016872100.2:n.*83G>A | |
| XM_017016612.2:c.661-2946G>A | XP_016872101.1:n.661-2946G>A | |
| XM_024448154.1:c.*83G>A | XP_024303922.1:n.*83G>A | |
| XR_002957010.1:n.2220G>A | ||
| XR_246103.3:n.1076G>A | ||
| XR_945810.2:n.1306G>A | ||
| NM_001324036.2:c.*83G>A | NP_001310965.1:n.*83G>A | |
| NM_001324037.2:c.*83G>A | NP_001310966.1:n.*83G>A | |
| NM_001324038.2:c.*83G>A | NP_001310967.1:n.*83G>A | |
| NR_136675.2:n.956G>A | ||
| NR_136676.2:n.1383G>A | ||
| NR_136678.2:n.867G>A | ||
| NR_136677.2:n.917-2946G>A |