Linked Data
dbSNP Id:
rs1239320830
gnomAD v2:
12-9875925-T-C
gnomAD v3:
12-9723329-T-C
gnomAD v4:
12-9723329-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.9723329T>C , CM000674.2:g.9723329T>C | GRCh38 |
| NC_000012.11:g.9875925T>C , CM000674.1:g.9875925T>C | GRCh37 |
| NC_000012.10:g.9767192T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000702603.1:n.150-516A>G | ||
| ENST00000327839.4:n.352-516A>G | ||
| ENST00000621400.5:n.263-516A>G | ||
| ENST00000327839.3:c.317-516A>G | ENSP00000331766.3:n.317-516A>G | |
| ENST00000542530.5:c.172-516A>G | ||
| ENST00000621400.4:c.317-516A>G | ENSP00000483624.1:n.317-516A>G | |
| NM_001253750.1:c.317-516A>G | NP_001240679.1:n.317-516A>G | |
| NM_001267701.1:c.317-516A>G | NP_001254630.1:n.317-516A>G | |
| NM_172004.3:c.317-516A>G | NP_742001.1:n.317-516A>G | |
| XM_011520574.1:c.317-516A>G | XP_011518876.1:n.317-516A>G | |
| XM_011520574.2:c.317-516A>G | XP_011518876.1:n.317-516A>G | |
| XM_017018885.1:c.149-516A>G | XP_016874374.1:n.149-516A>G | |
| NR_172485.1:n.349-516A>G | ||
| NR_172486.1:n.349-516A>G |