Linked Data
dbSNP Id:
rs2237717
gnomAD v2:
7-116405387-T-C
gnomAD v3:
7-116765333-T-C
gnomAD v4:
7-116765333-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.116765333T>C , CM000669.2:g.116765333T>C | GRCh38 |
| NC_000007.13:g.116405387T>C , CM000669.1:g.116405387T>C | GRCh37 |
| NC_000007.12:g.116192623T>C | NCBI36 |
| NG_008996.1:g.97929T>C , LRG_662:g.97929T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000422097.2:c.2583+2065T>C | ENSP00000398776.2:n.2583+2065T>C | |
| ENST00000436117.3:c.*188+2065T>C | ENSP00000410980.2:n.*188+2065T>C | |
| ENST00000318493.11:c.2637+2065T>C | ENSP00000317272.6:n.2637+2065T>C | |
| ENST00000397752.8:c.2583+2065T>C MANE Select | ENSP00000380860.3:n.2583+2065T>C | |
| ENST00000318493.10:c.2637+2065T>C | ENSP00000317272.6:n.2637+2065T>C | |
| ENST00000397752.7:c.2583+2065T>C | ENSP00000380860.3:n.2583+2065T>C | |
| ENST00000422097.1:c.423+2065T>C | ENSP00000398776.1:n.423+2065T>C | |
| NM_000245.2:c.2583+2065T>C | NP_000236.2:n.2583+2065T>C | |
| NM_001127500.1:c.2637+2065T>C , LRG_662t1:c.2637+2065T>C | NP_001120972.1:n.2637+2065T>C | |
| XM_006715990.2:c.1293+2065T>C | XP_006716053.1:n.1293+2065T>C | |
| XM_006715991.2:c.1293+2065T>C | XP_006716054.1:n.1293+2065T>C | |
| XM_011516223.1:c.2640+2065T>C | XP_011514525.1:n.2640+2065T>C | |
| NM_000245.3:c.2583+2065T>C | NP_000236.2:n.2583+2065T>C | |
| NM_001127500.2:c.2637+2065T>C | NP_001120972.1:n.2637+2065T>C | |
| NM_001324401.1:c.2583+2065T>C | NP_001311330.1:n.2583+2065T>C | |
| NM_001324402.1:c.1293+2065T>C | NP_001311331.1:n.1293+2065T>C | |
| XR_001744772.1:n.2714+2065T>C | ||
| NM_001127500.3:c.2637+2065T>C | NP_001120972.1:n.2637+2065T>C | |
| NM_000245.4:c.2583+2065T>C MANE Select | NP_000236.2:n.2583+2065T>C | |
| NM_001324401.2:c.2583+2065T>C | NP_001311330.1:n.2583+2065T>C | |
| NM_001324402.2:c.1293+2065T>C | NP_001311331.1:n.1293+2065T>C | |
| NM_001324401.3:c.2583+2065T>C | NP_001311330.1:n.2583+2065T>C |