Linked Data
ClinVar Variation Id:
301584
dbSNP Id:
rs375237841
ExAC:
10:91007282 T / C
gnomAD v2:
10-91007282-T-C
gnomAD v3:
10-89247525-T-C
gnomAD v4:
10-89247525-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.89247525T>C , CM000672.2:g.89247525T>C | GRCh38 |
| NC_000010.10:g.91007282T>C , CM000672.1:g.91007282T>C | GRCh37 |
| NC_000010.9:g.90997262T>C | NCBI36 |
| NG_008194.1:g.9379A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336233.10:c.111+13A>G MANE Select | ENSP00000337354.5:n.111+13A>G | |
| ENST00000282673.5:c.111+13A>G | ENSP00000282673.4:n.111+13A>G | |
| ENST00000336233.9:c.111+13A>G | ENSP00000337354.5:n.111+13A>G | |
| ENST00000371837.5:c.62-19127A>G | ENSP00000360903.1:n.62-19127A>G | |
| ENST00000428800.5:c.111+13A>G | ENSP00000388415.1:n.111+13A>G | |
| ENST00000456827.5:c.-120+4212A>G | ENSP00000413019.2:n.-120+4212A>G | |
| NM_000235.3:c.111+13A>G | NP_000226.2:n.111+13A>G | |
| NM_001127605.2:c.111+13A>G | NP_001121077.1:n.111+13A>G | |
| NM_001288979.1:c.-120+4212A>G | NP_001275908.1:n.-120+4212A>G | |
| XM_024448023.1:c.111+13A>G | XP_024303791.1:n.111+13A>G | |
| NM_000235.4:c.111+13A>G MANE Select | NP_000226.2:n.111+13A>G | |
| NM_001127605.3:c.111+13A>G | NP_001121077.1:n.111+13A>G | |
| NM_001288979.2:c.-120+4212A>G | NP_001275908.1:n.-120+4212A>G |