Linked Data
dbSNP Id:
rs1359503042
gnomAD v2:
15-38592012-A-G
gnomAD v3:
15-38299811-A-G
gnomAD v4:
15-38299811-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.38299811A>G , CM000677.2:g.38299811A>G | GRCh38 |
| NC_000015.9:g.38592012A>G , CM000677.1:g.38592012A>G | GRCh37 |
| NC_000015.8:g.36379304A>G | NCBI36 |
| NG_008980.1:g.51961A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299084.9:c.207+264A>G MANE Select | ENSP00000299084.4:n.207+264A>G | |
| ENST00000299084.8:c.207+264A>G | ENSP00000299084.4:n.207+264A>G | |
| ENST00000561205.1:n.545+264A>G | ||
| ENST00000561317.1:c.144+264A>G | ENSP00000453680.1:n.144+264A>G | |
| NM_152594.2:c.207+264A>G | NP_689807.1:n.207+264A>G | |
| XM_005254202.2:c.243+264A>G | XP_005254259.1:n.243+264A>G | |
| XM_005254203.3:c.-15-22430A>G | XP_005254260.1:n.-15-22430A>G | |
| XM_011521288.1:c.144+264A>G | XP_011519590.1:n.144+264A>G | |
| XM_011521289.1:c.144+264A>G | XP_011519591.1:n.144+264A>G | |
| XM_011521290.1:c.144+264A>G | XP_011519592.1:n.144+264A>G | |
| XM_005254202.3:c.243+264A>G | XP_005254259.1:n.243+264A>G | |
| XM_011521289.3:c.144+264A>G | XP_011519591.1:n.144+264A>G | |
| NM_152594.3:c.207+264A>G MANE Select | NP_689807.1:n.207+264A>G |