Linked Data
ClinVar Variation Id:
1924755
ClinVar RCV Id:
RCV002614028
dbSNP Id:
rs766447665
ExAC:
17:44115893 C / G
gnomAD v2:
17-44115893-C-G
gnomAD v4:
17-46038527-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.46038527C>G , CM000679.2:g.46038527C>G | GRCh38 |
| NC_000017.10:g.44115893C>G , CM000679.1:g.44115893C>G | GRCh37 |
| NC_000017.9:g.41471740C>G | NCBI36 |
| NG_032784.1:g.191848G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000432791.7:c.2541+11G>C MANE Select | ENSP00000387393.3:n.2541+11G>C | |
| ENST00000572904.6:c.2541+11G>C | ENSP00000461484.1:n.2541+11G>C | |
| ENST00000573286.2:n.4235G>C | ||
| ENST00000574590.6:c.2541+11G>C | ENSP00000461812.2:n.2541+11G>C | |
| ENST00000575318.6:c.2352+11G>C | ENSP00000461299.1:n.2352+11G>C | |
| ENST00000576137.2:n.538+11G>C | ||
| ENST00000638275.1:c.2352+11G>C | ENSP00000492576.1:n.2352+11G>C | |
| ENST00000639150.1:c.1275+11G>C | ENSP00000491906.1:n.1275+11G>C | |
| ENST00000639467.1:c.204+11G>C | ENSP00000492741.1:n.204+11G>C | |
| ENST00000639531.1:c.2352+11G>C | ENSP00000491765.1:n.2352+11G>C | |
| ENST00000640636.1:c.494+11G>C | ||
| ENST00000648792.1:c.2541+11G>C | ENSP00000497628.1:n.2541+11G>C | |
| ENST00000262419.10:c.2541+11G>C | ENSP00000262419.6:n.2541+11G>C | |
| ENST00000432791.5:c.2541+11G>C | ENSP00000387393.2:n.2541+11G>C | |
| ENST00000572218.5:n.6758+11G>C | ||
| ENST00000572904.5:c.2541+11G>C | ENSP00000461484.1:n.2541+11G>C | |
| ENST00000573286.1:n.408G>C | ||
| ENST00000574590.5:c.2541+11G>C | ENSP00000461812.1:n.2541+11G>C | |
| ENST00000575318.5:c.2352+11G>C | ENSP00000461299.1:n.2352+11G>C | |
| ENST00000576137.1:n.180+11G>C | ||
| ENST00000576870.5:n.513+11G>C | ||
| NM_001193465.1:c.2541+11G>C | NP_001180394.1:n.2541+11G>C | |
| NM_001193466.1:c.2541+11G>C | NP_001180395.1:n.2541+11G>C | |
| NM_015443.3:c.2541+11G>C | NP_056258.1:n.2541+11G>C | |
| XM_006721823.1:c.2541+11G>C | XP_006721886.1:n.2541+11G>C | |
| XM_006721824.2:c.2541+11G>C | XP_006721887.1:n.2541+11G>C | |
| XM_011524628.1:c.2541+11G>C | XP_011522930.1:n.2541+11G>C | |
| XM_011524629.1:c.2439+11G>C | XP_011522931.1:n.2439+11G>C | |
| XM_011524630.1:c.2352+11G>C | XP_011522932.1:n.2352+11G>C | |
| XM_011524631.1:c.2352+11G>C | XP_011522933.1:n.2352+11G>C | |
| XM_011524632.1:c.1311+11G>C | XP_011522934.1:n.1311+11G>C | |
| XM_006721823.2:c.2541+11G>C | XP_006721886.1:n.2541+11G>C | |
| XM_006721824.4:c.2541+11G>C | XP_006721887.1:n.2541+11G>C | |
| XM_011524628.3:c.2541+11G>C | XP_011522930.1:n.2541+11G>C | |
| XM_011524629.3:c.2439+11G>C | XP_011522931.1:n.2439+11G>C | |
| XM_011524630.3:c.2352+11G>C | XP_011522932.1:n.2352+11G>C | |
| XM_011524631.3:c.2352+11G>C | XP_011522933.1:n.2352+11G>C | |
| XM_011524632.3:c.1311+11G>C | XP_011522934.1:n.1311+11G>C | |
| XM_017024488.2:c.2352+11G>C | XP_016879977.1:n.2352+11G>C | |
| XM_017024489.1:c.2450G>C | XP_016879978.1:p.Cys817Ser | |
| NM_001193466.2:c.2541+11G>C | NP_001180395.1:n.2541+11G>C | |
| NM_015443.4:c.2541+11G>C MANE Select | NP_056258.1:n.2541+11G>C | |
| NM_001193465.2:c.2541+11G>C | NP_001180394.1:n.2541+11G>C | |
| NM_001379198.1:c.2541+11G>C | NP_001366127.1:n.2541+11G>C |