Linked Data
ClinVar Variation Id:
329434
ClinVar RCV Id:
RCV000350142
RCV000385973
RCV000518390
RCV000858874
RCV002259894
RCV002259895
RCV004549742
RCV003243084
dbSNP Id:
rs369853936
ExAC:
19:42498220 T / C
gnomAD v2:
19-42498220-T-C
gnomAD v3:
19-41994068-T-C
gnomAD v4:
19-41994068-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41994068T>C , CM000681.2:g.41994068T>C | GRCh38 |
| NC_000019.9:g.42498220T>C , CM000681.1:g.42498220T>C | GRCh37 |
| NC_000019.8:g.47190060T>C | NCBI36 |
| NG_008015.1:g.5163A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545399.6:c.6+3A>G | ENSP00000444688.1:n.6+3A>G | |
| ENST00000644613.1:c.6+3A>G | ENSP00000494711.1:n.6+3A>G | |
| ENST00000648268.1:c.6+3A>G MANE Select | ENSP00000498113.1:n.6+3A>G | |
| ENST00000302102.9:c.6+3A>G | ENSP00000302397.5:n.6+3A>G | |
| ENST00000441343.5:c.6+3A>G | ENSP00000411503.1:n.6+3A>G | |
| ENST00000473086.3:c.-85+3379A>G | ENSP00000469129.2:n.-85+3379A>G | |
| ENST00000545399.5:c.6+3A>G | ENSP00000444688.1:n.6+3A>G | |
| ENST00000602133.5:c.-142A>G | ENSP00000471581.1:n.-142A>G | |
| NM_001256214.1:c.6+3A>G | NP_001243143.1:n.6+3A>G | |
| NM_152296.4:c.6+3A>G | NP_689509.1:n.6+3A>G | |
| XM_011526991.1:c.-142A>G | XP_011525293.1:n.-142A>G | |
| NM_152296.5:c.6+3A>G MANE Select | NP_689509.1:n.6+3A>G | |
| NM_001256214.2:c.6+3A>G | NP_001243143.1:n.6+3A>G |