Linked Data
ClinVar Variation Id:
1238293
ClinVar RCV Id:
RCV001638696
dbSNP Id:
rs62130643
gnomAD v2:
2-29551161-G-A
gnomAD v3:
2-29328295-G-A
gnomAD v4:
2-29328295-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29328295G>A , CM000664.2:g.29328295G>A | GRCh38 |
| NC_000002.11:g.29551161G>A , CM000664.1:g.29551161G>A | GRCh37 |
| NC_000002.10:g.29404665G>A | NCBI36 |
| NG_009445.1:g.598272C>T , LRG_488:g.598272C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.1414+55C>T MANE Select | ENSP00000373700.3:n.1414+55C>T | |
| ENST00000389048.7:c.1414+55C>T | ENSP00000373700.3:n.1414+55C>T | |
| ENST00000618119.4:c.283+55C>T | ENSP00000482733.1:n.283+55C>T | |
| NM_004304.4:c.1414+55C>T | NP_004295.2:n.1414+55C>T | |
| XR_939920.1:n.693-90G>A | ||
| XR_939921.1:n.680+5767G>A | ||
| XR_001738688.2:n.2344+55C>T | ||
| XR_244977.4:n.1787G>A | ||
| XR_939920.2:n.583-90G>A | ||
| XR_939921.2:n.576+5767G>A | ||
| XR_939922.2:n.1827G>A | ||
| NM_004304.5:c.1414+55C>T MANE Select | NP_004295.2:n.1414+55C>T |