Linked Data
ClinVar Variation Id:
228929
dbSNP Id:
rs867195616
gnomAD v2:
22-36722712-A-C
gnomAD v3:
22-36326667-A-C
gnomAD v4:
22-36326667-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36326667A>C , CM000684.2:g.36326667A>C | GRCh38 |
| NC_000022.10:g.36722712A>C , CM000684.1:g.36722712A>C | GRCh37 |
| NC_000022.9:g.35052658A>C | NCBI36 |
| NG_011884.2:g.66352T>G , LRG_567:g.66352T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685187.1:n.733-6T>G | ||
| ENST00000685191.1:n.742-6T>G | ||
| ENST00000685801.1:c.519-6T>G | ENSP00000510688.1:n.519-6T>G | |
| ENST00000688137.1:c.519-6T>G | ENSP00000510189.1:n.519-6T>G | |
| ENST00000691296.1:c.519-6T>G | ENSP00000509816.1:n.519-6T>G | |
| ENST00000691687.1:n.733-6T>G | ||
| ENST00000692930.1:n.733-6T>G | ||
| ENST00000216181.11:c.519-6T>G MANE Select | ENSP00000216181.6:n.519-6T>G | |
| ENST00000216181.9:c.519-6T>G | ENSP00000216181.5:n.519-6T>G | |
| ENST00000401701.1:c.519-6T>G | ENSP00000384631.1:n.519-6T>G | |
| ENST00000463027.1:n.123-6T>G | ||
| NM_002473.5:c.519-6T>G , LRG_567t1:c.519-6T>G | NP_002464.1:n.519-6T>G | |
| XM_011530197.1:c.519-6T>G | XP_011528499.1:n.519-6T>G | |
| XM_011530197.2:c.519-6T>G | XP_011528499.1:n.519-6T>G | |
| XM_017028803.1:c.519-6T>G | XP_016884292.1:n.519-6T>G | |
| XM_017028804.1:c.519-6T>G | XP_016884293.1:n.519-6T>G | |
| XM_017028805.1:c.519-6T>G | XP_016884294.1:n.519-6T>G | |
| XM_017028806.1:c.519-6T>G | XP_016884295.1:n.519-6T>G | |
| NM_002473.6:c.519-6T>G MANE Select | NP_002464.1:n.519-6T>G |