Linked Data
dbSNP Id:
rs750770311
ExAC:
10:127477402 G / C
gnomAD v2:
10-127477402-G-C
gnomAD v3:
10-125788833-G-C
gnomAD v4:
10-125788833-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.125788833G>C , CM000672.2:g.125788833G>C | GRCh38 |
| NC_000010.10:g.127477402G>C , CM000672.1:g.127477402G>C | GRCh37 |
| NC_000010.9:g.127467392G>C | NCBI36 |
| NG_011557.1:g.39436C>G | |
| NG_011557.2:g.39436C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000713579.1:c.*35C>G | ENSP00000518871.1:n.*35C>G | |
| ENST00000368797.10:c.*35C>G MANE Select | ENSP00000357787.4:n.*35C>G | |
| ENST00000465577.6:c.853C>G | ||
| ENST00000648427.1:c.*831C>G | ENSP00000497909.1:n.*831C>G | |
| ENST00000649536.1:c.*35C>G | ENSP00000497817.1:n.*35C>G | |
| ENST00000650472.1:n.3219C>G | ||
| ENST00000650524.1:c.746C>G | ENSP00000498108.1:n.746C>G | |
| ENST00000650587.1:c.*35C>G | ENSP00000497366.1:n.*35C>G | |
| ENST00000368786.5:c.*35C>G | ENSP00000357775.1:n.*35C>G | |
| ENST00000368797.8:c.*35C>G | ENSP00000357787.4:n.*35C>G | |
| ENST00000464267.1:n.930C>G | ||
| ENST00000465577.5:n.475C>G | ||
| ENST00000470483.1:n.521C>G | ||
| ENST00000484541.5:n.606C>G | ||
| ENST00000616800.4:c.161-3573C>G | ||
| ENST00000622016.4:c.241-2994C>G | ENSP00000483041.1:n.241-2994C>G | |
| NM_000375.2:c.*35C>G | NP_000366.1:n.*35C>G | |
| XM_005270137.2:c.*35C>G | XP_005270194.1:n.*35C>G | |
| XM_005270138.2:c.*35C>G | XP_005270195.1:n.*35C>G | |
| XM_005270139.2:c.661-2994C>G | XP_005270196.1:n.661-2994C>G | |
| XM_006717960.2:c.*35C>G | XP_006718023.1:n.*35C>G | |
| XM_011540127.1:c.661-3573C>G | XP_011538429.1:n.661-3573C>G | |
| XR_246103.2:n.1013C>G | ||
| XR_945810.1:n.1243C>G | ||
| NM_000375.3:c.*35C>G MANE Select | NP_000366.1:n.*35C>G | |
| NM_001324036.1:c.*35C>G | NP_001310965.1:n.*35C>G | |
| NM_001324037.1:c.*35C>G | NP_001310966.1:n.*35C>G | |
| NM_001324038.1:c.*35C>G | NP_001310967.1:n.*35C>G | |
| NR_136675.1:n.918C>G | ||
| NR_136676.1:n.1345C>G | ||
| NR_136677.1:n.927-2994C>G | ||
| NR_136678.1:n.829C>G | ||
| XM_011540127.2:c.661-3573C>G | XP_011538429.1:n.661-3573C>G | |
| XM_017016611.2:c.*35C>G | XP_016872100.2:n.*35C>G | |
| XM_017016612.2:c.661-2994C>G | XP_016872101.1:n.661-2994C>G | |
| XM_024448154.1:c.*35C>G | XP_024303922.1:n.*35C>G | |
| XR_002957010.1:n.2172C>G | ||
| XR_246103.3:n.1028C>G | ||
| XR_945810.2:n.1258C>G | ||
| NM_001324036.2:c.*35C>G | NP_001310965.1:n.*35C>G | |
| NM_001324037.2:c.*35C>G | NP_001310966.1:n.*35C>G | |
| NM_001324038.2:c.*35C>G | NP_001310967.1:n.*35C>G | |
| NR_136675.2:n.908C>G | ||
| NR_136676.2:n.1335C>G | ||
| NR_136678.2:n.819C>G | ||
| NR_136677.2:n.917-2994C>G |