Linked Data
dbSNP Id:
rs931080292
gnomAD v2:
7-106938445-T-C
gnomAD v3:
7-107298000-T-C
gnomAD v4:
7-107298000-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107298000T>C , CM000669.2:g.107298000T>C | GRCh38 |
| NC_000007.13:g.106938445T>C , CM000669.1:g.106938445T>C | GRCh37 |
| NC_000007.12:g.106725681T>C | NCBI36 |
| NG_028095.1:g.271515A>G | |
| NG_028095.2:g.271515A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000297135.9:c.1313+142A>G MANE Select | ENSP00000297135.4:n.1313+142A>G | |
| ENST00000347053.8:c.1313+142A>G | ENSP00000334703.3:n.1313+142A>G | |
| ENST00000393603.7:c.1313+142A>G | ENSP00000377228.3:n.1313+142A>G | |
| ENST00000297135.7:c.1406+142A>G | ENSP00000297135.3:n.1406+142A>G | |
| ENST00000347053.7:c.1406+142A>G | ENSP00000334703.2:n.1406+142A>G | |
| ENST00000393603.6:c.1406+142A>G | ENSP00000377228.2:n.1406+142A>G | |
| NM_001161520.1:c.1406+142A>G | NP_001154992.1:n.1406+142A>G | |
| NM_006348.3:c.1406+142A>G | NP_006339.3:n.1406+142A>G | |
| NM_181733.2:c.1406+142A>G | NP_859422.2:n.1406+142A>G | |
| XM_011515738.1:c.1406+142A>G | XP_011514040.1:n.1406+142A>G | |
| XM_024446634.1:c.1406+142A>G | XP_024302402.1:n.1406+142A>G | |
| NM_001161520.2:c.1313+142A>G | NP_001154992.2:n.1313+142A>G | |
| NM_006348.4:c.1313+142A>G | NP_006339.4:n.1313+142A>G | |
| NM_181733.3:c.1313+142A>G | NP_859422.3:n.1313+142A>G | |
| NM_001379511.1:c.1313+142A>G | NP_001366440.1:n.1313+142A>G | |
| NM_001379512.1:c.1313+142A>G | NP_001366441.1:n.1313+142A>G | |
| NM_001379513.1:c.1313+142A>G | NP_001366442.1:n.1313+142A>G | |
| NM_001379514.1:c.1313+142A>G | NP_001366443.1:n.1313+142A>G | |
| NM_001379515.1:c.743+142A>G | NP_001366444.1:n.743+142A>G | |
| NM_001379516.1:c.599+142A>G | NP_001366445.1:n.599+142A>G | |
| NM_006348.5:c.1313+142A>G MANE Select | NP_006339.4:n.1313+142A>G | |
| NM_181733.4:c.1313+142A>G | NP_859422.3:n.1313+142A>G |