Linked Data
ClinVar Variation Id:
878598
ClinVar RCV Id:
RCV001105342
dbSNP Id:
rs1436191296
gnomAD v2:
10-127477381-A-G
gnomAD v3:
10-125788812-A-G
gnomAD v4:
10-125788812-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.125788812A>G , CM000672.2:g.125788812A>G | GRCh38 |
| NC_000010.10:g.127477381A>G , CM000672.1:g.127477381A>G | GRCh37 |
| NC_000010.9:g.127467371A>G | NCBI36 |
| NG_011557.1:g.39457T>C | |
| NG_011557.2:g.39457T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000713579.1:c.*56T>C | ENSP00000518871.1:n.*56T>C | |
| ENST00000368797.10:c.*56T>C MANE Select | ENSP00000357787.4:n.*56T>C | |
| ENST00000465577.6:c.874T>C | ||
| ENST00000648427.1:c.*852T>C | ENSP00000497909.1:n.*852T>C | |
| ENST00000649536.1:c.*56T>C | ENSP00000497817.1:n.*56T>C | |
| ENST00000650472.1:n.3240T>C | ||
| ENST00000650524.1:c.767T>C | ENSP00000498108.1:n.767T>C | |
| ENST00000650587.1:c.*56T>C | ENSP00000497366.1:n.*56T>C | |
| ENST00000368786.5:c.*56T>C | ENSP00000357775.1:n.*56T>C | |
| ENST00000368797.8:c.*56T>C | ENSP00000357787.4:n.*56T>C | |
| ENST00000464267.1:n.951T>C | ||
| ENST00000465577.5:n.496T>C | ||
| ENST00000470483.1:n.542T>C | ||
| ENST00000484541.5:n.627T>C | ||
| ENST00000616800.4:c.161-3552T>C | ||
| ENST00000622016.4:c.241-2973T>C | ENSP00000483041.1:n.241-2973T>C | |
| NM_000375.2:c.*56T>C | NP_000366.1:n.*56T>C | |
| XM_005270137.2:c.*56T>C | XP_005270194.1:n.*56T>C | |
| XM_005270138.2:c.*56T>C | XP_005270195.1:n.*56T>C | |
| XM_005270139.2:c.661-2973T>C | XP_005270196.1:n.661-2973T>C | |
| XM_006717960.2:c.*56T>C | XP_006718023.1:n.*56T>C | |
| XM_011540127.1:c.661-3552T>C | XP_011538429.1:n.661-3552T>C | |
| XR_246103.2:n.1034T>C | ||
| XR_945810.1:n.1264T>C | ||
| NM_000375.3:c.*56T>C MANE Select | NP_000366.1:n.*56T>C | |
| NM_001324036.1:c.*56T>C | NP_001310965.1:n.*56T>C | |
| NM_001324037.1:c.*56T>C | NP_001310966.1:n.*56T>C | |
| NM_001324038.1:c.*56T>C | NP_001310967.1:n.*56T>C | |
| NR_136675.1:n.939T>C | ||
| NR_136676.1:n.1366T>C | ||
| NR_136677.1:n.927-2973T>C | ||
| NR_136678.1:n.850T>C | ||
| XM_011540127.2:c.661-3552T>C | XP_011538429.1:n.661-3552T>C | |
| XM_017016611.2:c.*56T>C | XP_016872100.2:n.*56T>C | |
| XM_017016612.2:c.661-2973T>C | XP_016872101.1:n.661-2973T>C | |
| XM_024448154.1:c.*56T>C | XP_024303922.1:n.*56T>C | |
| XR_002957010.1:n.2193T>C | ||
| XR_246103.3:n.1049T>C | ||
| XR_945810.2:n.1279T>C | ||
| NM_001324036.2:c.*56T>C | NP_001310965.1:n.*56T>C | |
| NM_001324037.2:c.*56T>C | NP_001310966.1:n.*56T>C | |
| NM_001324038.2:c.*56T>C | NP_001310967.1:n.*56T>C | |
| NR_136675.2:n.929T>C | ||
| NR_136676.2:n.1356T>C | ||
| NR_136678.2:n.840T>C | ||
| NR_136677.2:n.917-2973T>C |