Linked Data
dbSNP Id:
rs1475511238
gnomAD v2:
16-56370621-A-G
gnomAD v3:
16-56336709-A-G
gnomAD v4:
16-56336709-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56336709A>G , CM000678.2:g.56336709A>G | GRCh38 |
| NC_000016.9:g.56370621A>G , CM000678.1:g.56370621A>G | GRCh37 |
| NC_000016.8:g.54928122A>G | NCBI36 |
| NG_042800.1:g.150371A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262494.13:c.594-22A>G | ENSP00000262494.7:n.594-22A>G | |
| ENST00000262493.12:c.594-22A>G MANE Select | ENSP00000262493.6:n.594-22A>G | |
| ENST00000262494.12:c.594-22A>G | ENSP00000262494.7:n.594-22A>G | |
| ENST00000562316.6:c.261-22A>G | ENSP00000457238.2:n.261-22A>G | |
| ENST00000638185.1:n.809-22A>G | ||
| ENST00000638210.1:n.894-22A>G | ||
| ENST00000638705.1:c.594-22A>G | ENSP00000491223.1:n.594-22A>G | |
| ENST00000638836.1:n.504-22A>G | ||
| ENST00000639055.1:n.1315-22A>G | ||
| ENST00000639251.1:n.495-22A>G | ||
| ENST00000639268.1:c.229-22A>G | ||
| ENST00000639341.1:c.119-22A>G | ||
| ENST00000639770.1:c.632-22A>G | ENSP00000491999.1:n.632-22A>G | |
| ENST00000640390.1:n.524-22A>G | ||
| ENST00000640560.1:n.348A>G | ||
| ENST00000640893.1:c.433-22A>G | ENSP00000492677.1:n.433-22A>G | |
| ENST00000262493.10:c.594-22A>G | ENSP00000262493.6:n.594-22A>G | |
| ENST00000262494.11:c.594-22A>G | ENSP00000262494.7:n.594-22A>G | |
| NM_020988.2:c.594-22A>G | NP_066268.1:n.594-22A>G | |
| NM_138736.2:c.594-22A>G | NP_620073.2:n.594-22A>G | |
| XM_011523003.1:c.468-22A>G | XP_011521305.1:n.468-22A>G | |
| XM_011523003.3:c.468-22A>G | XP_011521305.1:n.468-22A>G | |
| NM_020988.3:c.594-22A>G MANE Select | NP_066268.1:n.594-22A>G | |
| NM_138736.3:c.594-22A>G | NP_620073.2:n.594-22A>G |