Linked Data
dbSNP Id:
rs2126986
gnomAD v2:
16-56351707-A-G
gnomAD v3:
16-56317795-A-G
gnomAD v4:
16-56317795-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56317795A>G , CM000678.2:g.56317795A>G | GRCh38 |
| NC_000016.9:g.56351707A>G , CM000678.1:g.56351707A>G | GRCh37 |
| NC_000016.8:g.54909208A>G | NCBI36 |
| NG_042800.1:g.131457A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262494.13:c.304-10836A>G | ENSP00000262494.7:n.304-10836A>G | |
| ENST00000262493.12:c.304-10836A>G MANE Select | ENSP00000262493.6:n.304-10836A>G | |
| ENST00000262494.12:c.304-10836A>G | ENSP00000262494.7:n.304-10836A>G | |
| ENST00000638185.1:n.519-10836A>G | ||
| ENST00000638210.1:n.604-10836A>G | ||
| ENST00000638705.1:c.304-10836A>G | ENSP00000491223.1:n.304-10836A>G | |
| ENST00000638836.1:n.214-10836A>G | ||
| ENST00000639055.1:n.1025-10836A>G | ||
| ENST00000639251.1:n.205-10836A>G | ||
| ENST00000639268.1:c.68-10836A>G | ||
| ENST00000639770.1:c.342-10836A>G | ENSP00000491999.1:n.342-10836A>G | |
| ENST00000639966.1:n.319-10836A>G | ||
| ENST00000640390.1:n.234-10836A>G | ||
| ENST00000640893.1:c.304-16934A>G | ENSP00000492677.1:n.304-16934A>G | |
| ENST00000262493.10:c.304-10836A>G | ENSP00000262493.6:n.304-10836A>G | |
| ENST00000262494.11:c.304-10836A>G | ENSP00000262494.7:n.304-10836A>G | |
| ENST00000562316.5:c.43-10836A>G | ENSP00000457238.1:n.43-10836A>G | |
| ENST00000563440.1:c.43-10836A>G | ENSP00000455774.1:n.43-10836A>G | |
| ENST00000565363.5:c.178-10836A>G | ENSP00000454728.1:n.178-10836A>G | |
| NM_020988.2:c.304-10836A>G | NP_066268.1:n.304-10836A>G | |
| NM_138736.2:c.304-10836A>G | NP_620073.2:n.304-10836A>G | |
| XM_011523003.1:c.178-10836A>G | XP_011521305.1:n.178-10836A>G | |
| XM_011523003.3:c.178-10836A>G | XP_011521305.1:n.178-10836A>G | |
| NM_020988.3:c.304-10836A>G MANE Select | NP_066268.1:n.304-10836A>G | |
| NM_138736.3:c.304-10836A>G | NP_620073.2:n.304-10836A>G |