Linked Data
ClinVar Variation Id:
226419
dbSNP Id:
rs875989952
gnomAD v4:
12-101757659-T-C
PubMed:
PMID:27180337
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101757659T>C , CM000674.2:g.101757659T>C | GRCh38 |
| NC_000012.11:g.102151437T>C , CM000674.1:g.102151437T>C | GRCh37 |
| NC_000012.10:g.100675568T>C | NCBI36 |
| NG_021243.1:g.78209A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.3250-2A>G MANE Select | ENSP00000299314.7:n.3250-2A>G | |
| ENST00000299314.11:c.3250-2A>G | ENSP00000299314.7:n.3250-2A>G | |
| ENST00000549194.1:n.116-2A>G | ||
| ENST00000550718.1:c.62-2A>G | ||
| NM_024312.4:c.3250-2A>G | NP_077288.2:n.3250-2A>G | |
| XM_006719593.2:c.3250-2A>G | XP_006719656.1:n.3250-2A>G | |
| XM_011538731.1:c.3169-2A>G | XP_011537033.1:n.3169-2A>G | |
| XM_006719593.3:c.3250-2A>G | XP_006719656.1:n.3250-2A>G | |
| XM_011538731.2:c.3169-2A>G | XP_011537033.1:n.3169-2A>G | |
| XM_017019961.1:c.3034-2A>G | XP_016875450.1:n.3034-2A>G | |
| XM_017019962.2:c.2023-2A>G | XP_016875451.1:n.2023-2A>G | |
| NM_024312.5:c.3250-2A>G MANE Select | NP_077288.2:n.3250-2A>G |