Linked Data
dbSNP Id:
rs911565166
gnomAD v2:
17-42985316-G-A
gnomAD v3:
17-44907948-G-A
gnomAD v4:
17-44907948-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44907948G>A , CM000679.2:g.44907948G>A | GRCh38 |
| NC_000017.10:g.42985316G>A , CM000679.1:g.42985316G>A | GRCh37 |
| NC_000017.9:g.40340842G>A | NCBI36 |
| NG_008401.1:g.12599C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253408.11:c.1377+116C>T | ENSP00000253408.5:n.1377+116C>T | |
| ENST00000253408.10:c.1377+116C>T | ENSP00000253408.5:n.1377+116C>T | |
| ENST00000441312.2:n.110+116C>T | ||
| ENST00000585543.6:n.410+116C>T | ||
| ENST00000586125.2:c.308C>T | ENSP00000467397.2:p.Ala103Val | |
| ENST00000588735.3:c.1257+116C>T MANE Select | ENSP00000466598.2:n.1257+116C>T | |
| ENST00000589701.2:n.2164+116C>T | ||
| ENST00000591880.2:c.472C>T | ||
| ENST00000592065.2:n.625+116C>T | ||
| ENST00000638304.1:c.176+116C>T | ||
| ENST00000638400.1:c.92+116C>T | ||
| ENST00000638488.1:n.721+116C>T | ||
| ENST00000638618.1:c.912+116C>T | ENSP00000492832.1:n.912+116C>T | |
| ENST00000638921.1:n.300C>T | ||
| ENST00000639042.1:c.229+116C>T | ||
| ENST00000639243.1:c.13+116C>T | ||
| ENST00000639277.1:c.1257+116C>T | ENSP00000492432.1:n.1257+116C>T | |
| ENST00000639369.1:c.107+116C>T | ||
| ENST00000640545.1:c.63+116C>T | ENSP00000491735.1:n.63+116C>T | |
| ENST00000640859.1:c.71+116C>T | ||
| ENST00000253408.9:c.1257+116C>T | ENSP00000253408.4:n.1257+116C>T | |
| ENST00000585543.5:n.410+116C>T | ||
| ENST00000588735.1:c.135+116C>T | ENSP00000466598.1:n.135+116C>T | |
| ENST00000589701.1:n.159+116C>T | ||
| ENST00000591880.1:c.239C>T | ENSP00000467530.1:p.Ala80Val | |
| ENST00000592065.1:n.51+116C>T | ||
| ENST00000592706.5:n.129+116C>T | ||
| NM_002055.4:c.1257+116C>T | NP_002046.1:n.1257+116C>T | |
| NM_001363846.1:c.1377+116C>T | NP_001350775.1:n.1377+116C>T | |
| XM_024450690.1:c.1581+116C>T | XP_024306458.1:n.1581+116C>T | |
| XM_024450692.1:c.1461+116C>T | XP_024306460.1:n.1461+116C>T | |
| NM_002055.5:c.1257+116C>T MANE Select | NP_002046.1:n.1257+116C>T | |
| NM_001363846.2:c.1377+116C>T | NP_001350775.1:n.1377+116C>T |