Linked Data
dbSNP Id:
rs777986525
ExAC:
17:42985295 T / C
gnomAD v2:
17-42985295-T-C
gnomAD v3:
17-44907927-T-C
gnomAD v4:
17-44907927-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44907927T>C , CM000679.2:g.44907927T>C | GRCh38 |
| NC_000017.10:g.42985295T>C , CM000679.1:g.42985295T>C | GRCh37 |
| NC_000017.9:g.40340821T>C | NCBI36 |
| NG_008401.1:g.12620A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253408.11:c.1377+137A>G | ENSP00000253408.5:n.1377+137A>G | |
| ENST00000253408.10:c.1377+137A>G | ENSP00000253408.5:n.1377+137A>G | |
| ENST00000441312.2:n.110+137A>G | ||
| ENST00000585543.6:n.410+137A>G | ||
| ENST00000586125.2:c.329A>G | ENSP00000467397.2:p.Glu110Gly | |
| ENST00000588735.3:c.1257+137A>G MANE Select | ENSP00000466598.2:n.1257+137A>G | |
| ENST00000589701.2:n.2164+137A>G | ||
| ENST00000591880.2:c.493A>G | ||
| ENST00000592065.2:n.625+137A>G | ||
| ENST00000638304.1:c.176+137A>G | ||
| ENST00000638400.1:c.92+137A>G | ||
| ENST00000638488.1:n.721+137A>G | ||
| ENST00000638618.1:c.912+137A>G | ENSP00000492832.1:n.912+137A>G | |
| ENST00000638921.1:n.321A>G | ||
| ENST00000639042.1:c.229+137A>G | ||
| ENST00000639243.1:c.13+137A>G | ||
| ENST00000639277.1:c.1257+137A>G | ENSP00000492432.1:n.1257+137A>G | |
| ENST00000639369.1:c.107+137A>G | ||
| ENST00000640545.1:c.63+137A>G | ENSP00000491735.1:n.63+137A>G | |
| ENST00000640859.1:c.71+137A>G | ||
| ENST00000253408.9:c.1257+137A>G | ENSP00000253408.4:n.1257+137A>G | |
| ENST00000585543.5:n.410+137A>G | ||
| ENST00000588735.1:c.135+137A>G | ENSP00000466598.1:n.135+137A>G | |
| ENST00000589701.1:n.159+137A>G | ||
| ENST00000591880.1:c.260A>G | ENSP00000467530.1:p.Glu87Gly | |
| ENST00000592065.1:n.51+137A>G | ||
| ENST00000592706.5:n.129+137A>G | ||
| NM_002055.4:c.1257+137A>G | NP_002046.1:n.1257+137A>G | |
| NM_001363846.1:c.1377+137A>G | NP_001350775.1:n.1377+137A>G | |
| XM_024450690.1:c.1581+137A>G | XP_024306458.1:n.1581+137A>G | |
| XM_024450692.1:c.1461+137A>G | XP_024306460.1:n.1461+137A>G | |
| NM_002055.5:c.1257+137A>G MANE Select | NP_002046.1:n.1257+137A>G | |
| NM_001363846.2:c.1377+137A>G | NP_001350775.1:n.1377+137A>G |