Linked Data
dbSNP Id:
rs1200043637
gnomAD v2:
4-72616869-T-C
gnomAD v3:
4-71751152-T-C
gnomAD v4:
4-71751152-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.71751152T>C , CM000666.2:g.71751152T>C | GRCh38 |
| NC_000004.11:g.72616869T>C , CM000666.1:g.72616869T>C | GRCh37 |
| NC_000004.10:g.72835733T>C | NCBI36 |
| NG_012837.2:g.59369A>G | |
| NG_012837.3:g.59369A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000273951.13:c.1395+1366A>G MANE Select | ENSP00000273951.8:n.1395+1366A>G | |
| ENST00000273951.12:c.1395+1366A>G | ENSP00000273951.8:n.1395+1366A>G | |
| ENST00000503364.5:n.68+3259A>G | ||
| ENST00000503472.5:n.1279+1366A>G | ||
| ENST00000504199.5:c.1452+1366A>G | ENSP00000421725.1:n.1452+1366A>G | |
| ENST00000509740.5:c.*218+1366A>G | ENSP00000422664.1:n.*218+1366A>G | |
| ENST00000513476.5:c.1395+1366A>G | ENSP00000426683.1:n.1395+1366A>G | |
| NM_000583.3:c.1395+1366A>G | NP_000574.2:n.1395+1366A>G | |
| NM_001204306.1:c.1395+1366A>G | NP_001191235.1:n.1395+1366A>G | |
| NM_001204307.1:c.1452+1366A>G | NP_001191236.1:n.1452+1366A>G | |
| XM_006714177.2:c.1262+3259A>G | XP_006714240.1:n.1262+3259A>G | |
| XM_006714177.3:c.1262+3259A>G | XP_006714240.1:n.1262+3259A>G | |
| NM_000583.4:c.1395+1366A>G MANE Select | NP_000574.2:n.1395+1366A>G |