Linked Data
dbSNP Id:
rs77352895
ExAC:
16:81391574 C / G
gnomAD v2:
16-81391574-C-G
gnomAD v3:
16-81357969-C-G
gnomAD v4:
16-81357969-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.81357969C>G , CM000678.2:g.81357969C>G | GRCh38 |
| NC_000016.9:g.81391574C>G , CM000678.1:g.81391574C>G | GRCh37 |
| NC_000016.8:g.79949075C>G | NCBI36 |
| NG_009007.1:g.48004C>G , LRG_242:g.48004C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648349.2:c.*681+38C>G | ENSP00000498114.1:n.*681+38C>G | |
| ENST00000648994.2:c.973+38C>G MANE Select | ENSP00000497351.1:n.973+38C>G | |
| ENST00000650388.1:c.507+38C>G | ENSP00000498081.1:n.507+38C>G | |
| ENST00000568107.2:c.973+38C>G | ENSP00000476795.1:n.973+38C>G | |
| NM_022041.3:c.973+38C>G , LRG_242t1:c.973+38C>G | NP_071324.1:n.973+38C>G | |
| XM_017023734.1:c.334+38C>G | XP_016879223.1:n.334+38C>G | |
| NM_001377486.1:c.334+38C>G | NP_001364415.1:n.334+38C>G | |
| NM_022041.4:c.973+38C>G MANE Select | NP_071324.1:n.973+38C>G |