Linked Data
ClinVar Variation Id:
761029
ClinVar RCV Id:
RCV001488943
dbSNP Id:
rs374300158
gnomAD v4:
19-17830495-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.17830495C>G , CM000681.2:g.17830495C>G | GRCh38 |
| NC_000019.9:g.17941304C>G , CM000681.1:g.17941304C>G | GRCh37 |
| NC_000019.8:g.17802304C>G | NCBI36 |
| NG_007273.1:g.22497G>C , LRG_77:g.22497G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526008.6:c.*1653+8G>C | ENSP00000513006.1:n.*1653+8G>C | |
| ENST00000696967.1:n.2273+8G>C | ||
| ENST00000696968.1:n.329+8G>C | ||
| ENST00000696969.1:n.2053+8G>C | ||
| ENST00000458235.7:c.3096+8G>C MANE Select | ENSP00000391676.1:n.3096+8G>C | |
| ENST00000458235.5:c.3096+8G>C | ENSP00000391676.1:n.3096+8G>C | |
| ENST00000527031.5:n.2279-5185G>C | ||
| ENST00000527670.5:c.3096+8G>C | ENSP00000432511.1:n.3096+8G>C | |
| ENST00000534444.1:c.3096+8G>C | ENSP00000436421.1:n.3096+8G>C | |
| NM_000215.3:c.3096+8G>C , LRG_77t1:c.3096+8G>C | NP_000206.2:n.3096+8G>C | |
| XM_005259896.2:c.3225+8G>C | XP_005259953.1:n.3225+8G>C | |
| XM_006722745.2:c.3096+8G>C | XP_006722808.1:n.3096+8G>C | |
| XM_005259896.3:c.3225+8G>C | XP_005259953.1:n.3225+8G>C | |
| NM_000215.4:c.3096+8G>C MANE Select | NP_000206.2:n.3096+8G>C |