Linked Data
ClinVar Variation Id:
1665008
ClinVar RCV Id:
RCV002191396
dbSNP Id:
rs528062881
ExAC:
19:42392189 G / C
gnomAD v2:
19-42392189-G-C
gnomAD v3:
19-41888118-G-C
gnomAD v4:
19-41888118-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41888118G>C , CM000681.2:g.41888118G>C | GRCh38 |
| NC_000019.9:g.42392189G>C , CM000681.1:g.42392189G>C | GRCh37 |
| NC_000019.8:g.47084029G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000599846.6:c.24+12G>C | ENSP00000470715.1:n.24+12G>C | |
| ENST00000698932.1:c.24+12G>C | ENSP00000514042.1:n.24+12G>C | |
| ENST00000698933.1:c.69+12G>C | ENSP00000514043.1:n.69+12G>C | |
| ENST00000698934.1:c.69+12G>C | ENSP00000514044.1:n.69+12G>C | |
| ENST00000706938.1:c.24+12G>C | ENSP00000516658.1:n.24+12G>C | |
| ENST00000354532.8:c.24+12G>C MANE Select | ENSP00000346532.3:n.24+12G>C | |
| ENST00000337665.8:c.69+12G>C | ENSP00000337261.3:n.69+12G>C | |
| ENST00000347545.8:c.24+12G>C | ENSP00000344429.3:n.24+12G>C | |
| ENST00000354532.7:c.24+12G>C | ENSP00000346532.2:n.24+12G>C | |
| ENST00000378152.8:c.69+12G>C | ENSP00000367394.3:n.69+12G>C | |
| ENST00000596957.1:n.67-3907G>C | ||
| ENST00000599846.5:c.24+12G>C | ENSP00000470715.1:n.24+12G>C | |
| ENST00000600274.5:n.150+12G>C | ||
| ENST00000600387.5:n.160+12G>C | ||
| NM_004706.3:c.24+12G>C | NP_004697.2:n.24+12G>C | |
| NM_198977.1:c.24+12G>C | NP_945328.1:n.24+12G>C | |
| NM_199002.1:c.69+12G>C | NP_945353.1:n.69+12G>C | |
| XM_005259386.3:c.69+12G>C | XP_005259443.1:n.69+12G>C | |
| XM_005259387.3:c.69+12G>C | XP_005259444.1:n.69+12G>C | |
| XM_005259388.2:c.24+12G>C | XP_005259445.1:n.24+12G>C | |
| XM_005259389.3:c.69+12G>C | XP_005259446.1:n.69+12G>C | |
| XM_005259390.3:c.69+12G>C | XP_005259447.1:n.69+12G>C | |
| XM_006723463.2:c.69+12G>C | XP_006723526.1:n.69+12G>C | |
| XM_011527468.1:c.69+12G>C | XP_011525770.1:n.69+12G>C | |
| NM_004706.4:c.24+12G>C MANE Select | NP_004697.2:n.24+12G>C | |
| NM_198977.2:c.24+12G>C | NP_945328.1:n.24+12G>C | |
| NM_199002.2:c.69+12G>C | NP_945353.1:n.69+12G>C | |
| NM_001396000.1:c.24+12G>C | NP_001382929.1:n.24+12G>C | |
| NM_001396002.1:c.24+12G>C | NP_001382931.1:n.24+12G>C | |
| NM_001396003.1:c.24+12G>C | NP_001382932.1:n.24+12G>C | |
| NM_001396004.1:c.24+12G>C | NP_001382933.1:n.24+12G>C | |
| NM_001396006.1:c.24+12G>C | NP_001382935.1:n.24+12G>C | |
| NR_173092.1:n.1353+12G>C | ||
| NR_173093.1:n.149+12G>C |