Linked Data
ClinVar Variation Id:
1113690
ClinVar RCV Id:
RCV001441121
dbSNP Id:
rs2102146941
gnomAD v4:
1-2024935-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.2024935T>C , CM000663.2:g.2024935T>C | GRCh38 |
| NC_000001.10:g.1956374T>C , CM000663.1:g.1956374T>C | GRCh37 |
| NC_000001.9:g.1946234T>C | NCBI36 |
| NG_008168.1:g.10607T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378585.7:c.69-7T>C MANE Select | ENSP00000367848.4:n.69-7T>C | |
| ENST00000638411.1:c.69-7T>C | ENSP00000491632.1:n.69-7T>C | |
| ENST00000638604.1:n.133-7T>C | ||
| ENST00000638771.1:c.69-7T>C | ENSP00000492435.1:n.69-7T>C | |
| ENST00000639045.1:c.*55-7T>C | ENSP00000491997.1:n.*55-7T>C | |
| ENST00000639777.1:n.666T>C | ||
| ENST00000639935.1:n.106-7T>C | ||
| ENST00000640030.1:c.9-7T>C | ENSP00000491411.1:n.9-7T>C | |
| ENST00000640067.1:c.69-7T>C | ENSP00000491844.1:n.69-7T>C | |
| ENST00000640423.1:n.78-7T>C | ||
| ENST00000640949.1:c.69-7T>C | ENSP00000492500.1:n.69-7T>C | |
| ENST00000378585.5:c.69-7T>C | ENSP00000367848.4:n.69-7T>C | |
| NM_000815.4:c.69-7T>C | NP_000806.2:n.69-7T>C | |
| XM_011541194.1:c.108-7T>C | XP_011539496.1:n.108-7T>C | |
| XM_011541194.3:c.108-7T>C | XP_011539496.1:n.108-7T>C | |
| XM_017000936.1:c.767T>C | XP_016856425.1:p.Ile256Thr | |
| NM_000815.5:c.69-7T>C MANE Select | NP_000806.2:n.69-7T>C |