Linked Data
ClinVar Variation Id:
1531121
ClinVar RCV Id:
RCV002092291
dbSNP Id:
rs374605203
ExAC:
17:33433993 C / A
gnomAD v2:
17-33433993-C-A
gnomAD v3:
17-35106974-C-A
gnomAD v4:
17-35106974-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.35106974C>A , CM000679.2:g.35106974C>A | GRCh38 |
| NC_000017.10:g.33433993C>A , CM000679.1:g.33433993C>A | GRCh37 |
| NC_000017.9:g.30458106C>A | NCBI36 |
| NG_031858.1:g.17896G>T , LRG_516:g.17896G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000586186.3:c.345+392G>T | ENSP00000468273.3:n.345+392G>T | |
| ENST00000587405.6:c.123+14G>T | ENSP00000466478.2:n.123+14G>T | |
| ENST00000590016.6:c.540+14G>T | ENSP00000466399.1:n.540+14G>T | |
| ENST00000590631.2:n.437-493G>T | ||
| ENST00000592577.6:c.123+14G>T | ENSP00000466839.2:n.123+14G>T | |
| ENST00000345365.11:c.480+14G>T MANE Select | ENSP00000338790.6:n.480+14G>T | |
| ENST00000335858.11:c.145-493G>T | ENSP00000338408.6:n.145-493G>T | |
| ENST00000345365.10:c.480+14G>T | ENSP00000338790.6:n.480+14G>T | |
| ENST00000394589.8:c.480+14G>T | ENSP00000378090.4:n.480+14G>T | |
| ENST00000415064.6:n.630+14G>T | ||
| ENST00000460118.6:c.-52+14G>T | ENSP00000464356.2:n.-52+14G>T | |
| ENST00000585343.5:c.562+14G>T | ||
| ENST00000585947.5:n.376+14G>T | ||
| ENST00000585982.5:n.500+392G>T | ||
| ENST00000586044.5:c.*211+14G>T | ENSP00000465584.1:n.*211+14G>T | |
| ENST00000586186.2:c.248+392G>T | ||
| ENST00000586210.5:c.*74+14G>T | ENSP00000465612.1:n.*74+14G>T | |
| ENST00000587405.5:c.123+14G>T | ENSP00000466478.1:n.123+14G>T | |
| ENST00000587977.5:c.*220+14G>T | ENSP00000466587.1:n.*220+14G>T | |
| ENST00000587982.5:n.273+392G>T | ||
| ENST00000588372.5:c.123+14G>T | ENSP00000468764.1:n.123+14G>T | |
| ENST00000588594.5:c.*76+392G>T | ENSP00000465366.1:n.*76+392G>T | |
| ENST00000590016.5:c.540+14G>T | ENSP00000466399.1:n.540+14G>T | |
| ENST00000590631.1:c.-51-493G>T | ENSP00000465033.1:n.-51-493G>T | |
| ENST00000591723.5:c.-52+392G>T | ENSP00000467986.1:n.-52+392G>T | |
| ENST00000592181.1:c.123+14G>T | ENSP00000464799.1:n.123+14G>T | |
| ENST00000592430.5:n.449+14G>T | ||
| ENST00000592577.5:c.486+14G>T | ENSP00000466839.1:n.486+14G>T | |
| ENST00000592850.5:c.346-493G>T | ||
| ENST00000592928.2:n.167-493G>T | ||
| ENST00000593039.5:c.4-493G>T | ENSP00000466834.1:n.4-493G>T | |
| NM_001142571.1:c.540+14G>T | NP_001136043.1:n.540+14G>T | |
| NM_002878.3:c.480+14G>T , LRG_516t1:c.480+14G>T | NP_002869.3:n.480+14G>T | |
| NM_133629.2:c.145-493G>T | NP_598332.1:n.145-493G>T | |
| NR_037711.1:n.617+14G>T | ||
| NR_037712.1:n.482+392G>T | ||
| NR_037714.1:n.233-493G>T | ||
| NM_001142571.2:c.540+14G>T | NP_001136043.1:n.540+14G>T | |
| NM_133629.3:c.145-493G>T | NP_598332.1:n.145-493G>T | |
| NR_037711.2:n.506+14G>T | ||
| NR_037712.2:n.371+392G>T | ||
| NM_002878.4:c.480+14G>T MANE Select | NP_002869.3:n.480+14G>T |