Linked Data
ClinVar Variation Id:
2972145
ClinVar RCV Id:
RCV003835271
dbSNP Id:
rs766900603
ExAC:
10:101590071 T / C
gnomAD v2:
10-101590071-T-C
gnomAD v4:
10-99830314-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99830314T>C , CM000672.2:g.99830314T>C | GRCh38 |
| NC_000010.10:g.101590071T>C , CM000672.1:g.101590071T>C | GRCh37 |
| NC_000010.9:g.101580061T>C | NCBI36 |
| NG_011798.1:g.52609T>C | |
| NG_011798.2:g.52717T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647814.1:c.2628T>C MANE Select | ENSP00000497274.1:p.Asp876= | |
| ENST00000370449.8:c.2628T>C | ENSP00000359478.4:p.Asp876= | |
| NM_000392.4:c.2628T>C | NP_000383.1:p.Asp876= | |
| XM_006717630.2:c.1932T>C | XP_006717693.1:p.Asp644= | |
| XM_006717631.2:c.*55T>C | XP_006717694.1:n.*55T>C | |
| XM_011539291.1:c.2628T>C | XP_011537593.1:p.Asp876= | |
| XR_945604.1:n.2817T>C | ||
| XR_945605.1:n.2819T>C | ||
| NM_000392.5:c.2628T>C MANE Select | NP_000383.2:p.Asp876= | |
| XM_006717630.3:c.1932T>C | XP_006717693.1:p.Asp644= | |
| XM_006717631.4:c.*55T>C | XP_006717694.1:n.*55T>C | |
| XM_011539291.3:c.2628T>C | XP_011537593.1:p.Asp876= | |
| XR_945604.3:n.2871T>C | ||
| XR_945605.3:n.2871T>C |