Linked Data
dbSNP Id:
rs10852765
gnomAD v2:
17-66884879-G-A
gnomAD v3:
17-68888738-G-A
gnomAD v4:
17-68888738-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.68888738G>A , CM000679.2:g.68888738G>A | GRCh38 |
| NC_000017.10:g.66884879G>A , CM000679.1:g.66884879G>A | GRCh37 |
| NC_000017.9:g.64396474G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000586539.6:c.3145-1232C>T MANE Select | ENSP00000467271.1:n.3145-1232C>T | |
| ENST00000269080.6:c.3025-1232C>T | ENSP00000269080.1:n.3025-1232C>T | |
| ENST00000430352.6:c.3145-1232C>T | ENSP00000402814.3:n.3145-1232C>T | |
| ENST00000541225.5:n.3156-1232C>T | ||
| ENST00000586539.5:c.3145-1232C>T | ENSP00000467271.1:n.3145-1232C>T | |
| NM_001288985.1:c.3145-1232C>T | NP_001275914.1:n.3145-1232C>T | |
| NM_001288986.1:c.3145-1232C>T | NP_001275915.1:n.3145-1232C>T | |
| NM_007168.3:c.3025-1232C>T | NP_009099.1:n.3025-1232C>T | |
| XM_005256938.1:c.3145-1232C>T | XP_005256995.1:n.3145-1232C>T | |
| XM_005256940.3:c.2962-1232C>T | XP_005256997.1:n.2962-1232C>T | |
| XM_011524188.1:c.3145-1232C>T | XP_011522490.1:n.3145-1232C>T | |
| XM_011524189.1:c.3145-1232C>T | XP_011522491.1:n.3145-1232C>T | |
| XM_011524190.1:c.3145-1232C>T | XP_011522492.1:n.3145-1232C>T | |
| XM_011524191.1:c.3145-1232C>T | XP_011522493.1:n.3145-1232C>T | |
| XM_005256940.4:c.2962-1232C>T | XP_005256997.1:n.2962-1232C>T | |
| XR_001752401.2:n.3316-1232C>T | ||
| XR_001752402.2:n.3246-1232C>T | ||
| XR_002957944.1:n.3316-1232C>T | ||
| XR_002957945.1:n.3316-1232C>T | ||
| XR_002957946.1:n.3316-1232C>T | ||
| NM_001288985.2:c.3145-1232C>T MANE Select | NP_001275914.1:n.3145-1232C>T | |
| NM_001375771.1:c.2962-1232C>T | NP_001362700.1:n.2962-1232C>T | |
| NM_001375772.1:c.1723-1232C>T | NP_001362701.1:n.1723-1232C>T | |
| NM_007168.4:c.3025-1232C>T | NP_009099.1:n.3025-1232C>T | |
| NM_001288986.2:c.3145-1232C>T | NP_001275915.1:n.3145-1232C>T |