Linked Data
dbSNP Id:
rs557032209
ExAC:
17:42985574 T / C
gnomAD v2:
17-42985574-T-C
gnomAD v4:
17-44908206-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44908206T>C , CM000679.2:g.44908206T>C | GRCh38 |
| NC_000017.10:g.42985574T>C , CM000679.1:g.42985574T>C | GRCh37 |
| NC_000017.9:g.40341100T>C | NCBI36 |
| NG_008401.1:g.12341A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253408.11:c.1292-57A>G | ENSP00000253408.5:n.1292-57A>G | |
| ENST00000253408.10:c.1292-57A>G | ENSP00000253408.5:n.1292-57A>G | |
| ENST00000441312.2:n.25-57A>G | ||
| ENST00000585543.6:n.325-57A>G | ||
| ENST00000586125.2:c.107-57A>G | ENSP00000467397.2:n.107-57A>G | |
| ENST00000588735.3:c.1172-57A>G MANE Select | ENSP00000466598.2:n.1172-57A>G | |
| ENST00000589701.2:n.2022A>G | ||
| ENST00000591880.2:c.271-57A>G | ||
| ENST00000592065.2:n.483A>G | ||
| ENST00000638304.1:c.91-57A>G | ||
| ENST00000638400.1:c.7-57A>G | ||
| ENST00000638488.1:n.636-57A>G | ||
| ENST00000638618.1:c.827-57A>G | ENSP00000492832.1:n.827-57A>G | |
| ENST00000638921.1:n.42A>G | ||
| ENST00000639042.1:c.144-57A>G | ||
| ENST00000639277.1:c.1172-57A>G | ENSP00000492432.1:n.1172-57A>G | |
| ENST00000639369.1:c.22-57A>G | ||
| ENST00000253408.9:c.1172-57A>G | ENSP00000253408.4:n.1172-57A>G | |
| ENST00000585543.5:n.325-57A>G | ||
| ENST00000586125.1:c.143-57A>G | ENSP00000467397.1:n.143-57A>G | |
| ENST00000588640.5:n.552-57A>G | ||
| ENST00000588735.1:c.83-90A>G | ENSP00000466598.1:n.83-90A>G | |
| ENST00000589701.1:n.17A>G | ||
| ENST00000591880.1:c.38-57A>G | ENSP00000467530.1:n.38-57A>G | |
| ENST00000592706.5:n.44-57A>G | ||
| NM_002055.4:c.1172-57A>G | NP_002046.1:n.1172-57A>G | |
| NM_001363846.1:c.1292-57A>G | NP_001350775.1:n.1292-57A>G | |
| XM_024450690.1:c.1496-57A>G | XP_024306458.1:n.1496-57A>G | |
| XM_024450692.1:c.1376-57A>G | XP_024306460.1:n.1376-57A>G | |
| NM_002055.5:c.1172-57A>G MANE Select | NP_002046.1:n.1172-57A>G | |
| NM_001363846.2:c.1292-57A>G | NP_001350775.1:n.1292-57A>G |