Linked Data
dbSNP Id:
rs576314383
ExAC:
2:178879015 G / C
gnomAD v2:
2-178879015-G-C
gnomAD v4:
2-178014288-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178014288G>C , CM000664.2:g.178014288G>C | GRCh38 |
| NC_000002.11:g.178879015G>C , CM000664.1:g.178879015G>C | GRCh37 |
| NC_000002.10:g.178587261G>C | NCBI36 |
| NG_012168.1:g.99052C>G | |
| NG_012168.2:g.99052C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286063.11:c.1071+14C>G MANE Select | ENSP00000286063.5:n.1071+14C>G | |
| ENST00000286063.10:c.1071+14C>G | ENSP00000286063.5:n.1071+14C>G | |
| ENST00000358450.8:c.321+14C>G | ENSP00000351232.4:n.321+14C>G | |
| NM_001077197.1:c.321+14C>G | NP_001070665.1:n.321+14C>G | |
| NM_016953.3:c.1071+14C>G | NP_058649.3:n.1071+14C>G | |
| NM_016953.4:c.1071+14C>G MANE Select | NP_058649.3:n.1071+14C>G | |
| NM_001077197.2:c.321+14C>G | NP_001070665.1:n.321+14C>G |