Linked Data
dbSNP Id:
rs757158635
ExAC:
17:42985269 C / T
gnomAD v2:
17-42985269-C-T
gnomAD v3:
17-44907901-C-T
gnomAD v4:
17-44907901-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44907901C>T , CM000679.2:g.44907901C>T | GRCh38 |
| NC_000017.10:g.42985269C>T , CM000679.1:g.42985269C>T | GRCh37 |
| NC_000017.9:g.40340795C>T | NCBI36 |
| NG_008401.1:g.12646G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253408.11:c.1377+163G>A | ENSP00000253408.5:n.1377+163G>A | |
| ENST00000253408.10:c.1377+163G>A | ENSP00000253408.5:n.1377+163G>A | |
| ENST00000441312.2:n.110+163G>A | ||
| ENST00000585543.6:n.410+163G>A | ||
| ENST00000586125.2:c.355G>A | ENSP00000467397.2:p.Val119Ile | |
| ENST00000588735.3:c.1257+163G>A MANE Select | ENSP00000466598.2:n.1257+163G>A | |
| ENST00000589701.2:n.2164+163G>A | ||
| ENST00000591880.2:c.519G>A | ||
| ENST00000592065.2:n.625+163G>A | ||
| ENST00000638304.1:c.176+163G>A | ||
| ENST00000638400.1:c.92+163G>A | ||
| ENST00000638488.1:n.721+163G>A | ||
| ENST00000638618.1:c.912+163G>A | ENSP00000492832.1:n.912+163G>A | |
| ENST00000638921.1:n.347G>A | ||
| ENST00000639042.1:c.229+163G>A | ||
| ENST00000639243.1:c.13+163G>A | ||
| ENST00000639277.1:c.1257+163G>A | ENSP00000492432.1:n.1257+163G>A | |
| ENST00000639369.1:c.107+163G>A | ||
| ENST00000640545.1:c.63+163G>A | ENSP00000491735.1:n.63+163G>A | |
| ENST00000640859.1:c.71+163G>A | ||
| ENST00000253408.9:c.1257+163G>A | ENSP00000253408.4:n.1257+163G>A | |
| ENST00000585543.5:n.410+163G>A | ||
| ENST00000588735.1:c.135+163G>A | ENSP00000466598.1:n.135+163G>A | |
| ENST00000589701.1:n.159+163G>A | ||
| ENST00000591880.1:c.286G>A | ENSP00000467530.1:p.Val96Ile | |
| ENST00000592065.1:n.51+163G>A | ||
| ENST00000592706.5:n.129+163G>A | ||
| NM_002055.4:c.1257+163G>A | NP_002046.1:n.1257+163G>A | |
| NM_001363846.1:c.1377+163G>A | NP_001350775.1:n.1377+163G>A | |
| XM_024450690.1:c.1581+163G>A | XP_024306458.1:n.1581+163G>A | |
| XM_024450692.1:c.1461+163G>A | XP_024306460.1:n.1461+163G>A | |
| NM_002055.5:c.1257+163G>A MANE Select | NP_002046.1:n.1257+163G>A | |
| NM_001363846.2:c.1377+163G>A | NP_001350775.1:n.1377+163G>A |