Linked Data
ClinVar Variation Id:
291355
ClinVar RCV Id:
RCV000303780
dbSNP Id:
rs552782825
gnomAD v2:
1-100387771-T-C
gnomAD v3:
1-99922215-T-C
gnomAD v4:
1-99922215-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.99922215T>C , CM000663.2:g.99922215T>C | GRCh38 |
| NC_000001.10:g.100387771T>C , CM000663.1:g.100387771T>C | GRCh37 |
| NC_000001.9:g.100160359T>C | NCBI36 |
| NG_012865.1:g.77132T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361915.8:c.*564T>C MANE Select | ENSP00000355106.3:n.*564T>C | |
| ENST00000637337.1:n.5374T>C | ||
| ENST00000294724.8:c.*564T>C | ENSP00000294724.4:n.*564T>C | |
| ENST00000361302.7:c.*564T>C | ENSP00000354971.3:n.*564T>C | |
| ENST00000361522.4:c.*564T>C | ENSP00000354635.4:n.*564T>C | |
| ENST00000361915.7:c.*564T>C | ENSP00000355106.3:n.*564T>C | |
| ENST00000370161.6:c.5115T>C | ENSP00000359180.2:n.5115T>C | |
| ENST00000370163.7:c.*564T>C | ENSP00000359182.3:n.*564T>C | |
| ENST00000370165.7:c.*564T>C | ENSP00000359184.3:n.*564T>C | |
| NM_000028.2:c.*564T>C | NP_000019.2:n.*564T>C | |
| NM_000642.2:c.*564T>C | NP_000633.2:n.*564T>C | |
| NM_000643.2:c.*564T>C | NP_000634.2:n.*564T>C | |
| NM_000644.2:c.*564T>C | NP_000635.2:n.*564T>C | |
| NM_000645.2:c.*564T>C | NP_000636.2:n.*564T>C | |
| NM_000646.2:c.*564T>C | NP_000637.2:n.*564T>C | |
| XM_005270557.1:c.*564T>C | XP_005270614.1:n.*564T>C | |
| XR_947626.1:n.1317+2023A>G | ||
| XR_947627.1:n.1206+2023A>G | ||
| XR_947628.1:n.1311+2023A>G | ||
| XR_947630.1:n.1249+2023A>G | ||
| XR_947632.1:n.1135+2023A>G | ||
| XR_947633.1:n.1246+2023A>G | ||
| XR_947634.1:n.660+2023A>G | ||
| XR_947635.1:n.728+2023A>G | ||
| XM_005270557.2:c.*564T>C | XP_005270614.1:n.*564T>C | |
| XM_017000501.2:c.*564T>C | XP_016855990.1:n.*564T>C | |
| NM_000642.3:c.*564T>C MANE Select | NP_000633.2:n.*564T>C |