Linked Data
dbSNP Id:
rs560170773
gnomAD v2:
14-103389123-A-G
gnomAD v3:
14-102922786-A-G
gnomAD v4:
14-102922786-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.102922786A>G , CM000676.2:g.102922786A>G | GRCh38 |
| NC_000014.8:g.103389123A>G , CM000676.1:g.103389123A>G | GRCh37 |
| NC_000014.7:g.102458876A>G | NCBI36 |
| NG_008276.2:g.5131A>G , LRG_642:g.5131A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299155.10:c.43+55A>G MANE Select | ENSP00000299155.6:n.43+55A>G | |
| ENST00000299155.9:c.43+55A>G | ENSP00000299155.5:n.43+55A>G | |
| NM_030943.3:c.43+55A>G , LRG_642t1:c.43+55A>G | NP_112205.2:n.43+55A>G | |
| XM_011537202.1:c.-120+36A>G | XP_011535504.1:n.-120+36A>G | |
| XM_011537202.3:c.-120+36A>G | XP_011535504.1:n.-120+36A>G | |
| XM_024449714.1:c.139+55A>G | XP_024305482.1:n.139+55A>G | |
| NM_030943.4:c.43+55A>G MANE Select | NP_112205.2:n.43+55A>G |