Linked Data
ClinVar Variation Id:
204594
dbSNP Id:
rs757350052
ExAC:
14:58923419 G / C
gnomAD v2:
14-58923419-G-C
gnomAD v3:
14-58456701-G-C
gnomAD v4:
14-58456701-G-C
PubMed:
PMID:26096313
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.58456701G>C , CM000676.2:g.58456701G>C | GRCh38 |
| NC_000014.8:g.58923419G>C , CM000676.1:g.58923419G>C | GRCh37 |
| NC_000014.7:g.57993172G>C | NCBI36 |
| NG_051335.2:g.34317G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000619722.5:c.999-1G>C | ENSP00000481936.1:n.999-1G>C | |
| ENST00000650845.1:n.1800-1G>C | ||
| ENST00000650904.1:c.1254-1G>C | ENSP00000498606.1:n.1254-1G>C | |
| ENST00000651759.1:c.2G>C | ENSP00000498415.1:p.Arg1Thr | |
| ENST00000651937.1:c.1209-1G>C | ENSP00000498785.1:n.1209-1G>C | |
| ENST00000652120.1:n.1006-1G>C | ||
| ENST00000652326.2:c.1254-1G>C MANE Select | ENSP00000498929.1:n.1254-1G>C | |
| ENST00000652732.1:c.*820-1G>C | ENSP00000498799.1:n.*820-1G>C | |
| ENST00000676447.1:n.395-1G>C | ||
| ENST00000261244.9:c.1254-1G>C | ENSP00000261244.5:n.1254-1G>C | |
| ENST00000354386.10:c.1413-1G>C | ENSP00000346359.6:n.1413-1G>C | |
| ENST00000423743.7:c.1122-1G>C | ENSP00000399427.3:n.1122-1G>C | |
| ENST00000538571.6:n.844-1G>C | ||
| ENST00000556134.5:c.1122-1G>C | ENSP00000452351.2:n.1122-1G>C | |
| ENST00000619416.4:c.1209-1G>C | ENSP00000478083.1:n.1209-1G>C | |
| ENST00000619722.4:c.999-1G>C | ENSP00000481936.1:n.999-1G>C | |
| NM_001244189.1:c.1413-1G>C | NP_001231118.1:n.1413-1G>C | |
| NM_001244190.1:c.1209-1G>C | NP_001231119.1:n.1209-1G>C | |
| NM_001244191.1:c.999-1G>C | NP_001231120.1:n.999-1G>C | |
| NM_001244192.1:c.1122-1G>C | NP_001231121.1:n.1122-1G>C | |
| NM_001244193.1:c.834-1G>C | NP_001231122.1:n.834-1G>C | |
| NM_014749.3:c.1254-1G>C | NP_055564.3:n.1254-1G>C | |
| NM_001329943.2:c.1254-1G>C | NP_001316872.1:n.1254-1G>C | |
| NM_001329944.1:c.1254-1G>C | NP_001316873.1:n.1254-1G>C | |
| NM_001329945.1:c.999-1G>C | NP_001316874.1:n.999-1G>C | |
| NM_001329946.1:c.1254-1G>C | NP_001316875.1:n.1254-1G>C | |
| NM_001329947.1:c.1254-1G>C | NP_001316876.1:n.1254-1G>C | |
| NM_001364700.1:c.999-1G>C | NP_001351629.1:n.999-1G>C | |
| NM_001364701.1:c.999-1G>C | NP_001351630.1:n.999-1G>C | |
| NM_014749.4:c.1254-1G>C | NP_055564.3:n.1254-1G>C | |
| XM_024449779.1:c.1377-1G>C | XP_024305547.1:n.1377-1G>C | |
| XM_024449780.1:c.1277G>C | XP_024305548.1:p.Arg426Thr | |
| XM_024449781.1:c.1377-1G>C | XP_024305549.1:n.1377-1G>C | |
| XM_024449782.1:c.1022G>C | XP_024305550.1:p.Arg341Thr | |
| XM_024449783.1:c.1022G>C | XP_024305551.1:p.Arg341Thr | |
| XM_024449784.1:c.1022G>C | XP_024305552.1:p.Arg341Thr | |
| XM_024449785.1:c.999-1G>C | XP_024305553.1:n.999-1G>C | |
| XM_024449787.1:c.858-1G>C | XP_024305555.1:n.858-1G>C | |
| XM_024449788.1:c.834-1G>C | XP_024305556.1:n.834-1G>C | |
| XM_024449789.1:c.834-1G>C | XP_024305557.1:n.834-1G>C | |
| XM_024449791.1:c.1277G>C | XP_024305559.1:p.Arg426Thr | |
| NM_001244189.2:c.1413-1G>C | NP_001231118.1:n.1413-1G>C | |
| NM_001244190.2:c.1209-1G>C | NP_001231119.1:n.1209-1G>C | |
| NM_001244192.2:c.1122-1G>C | NP_001231121.1:n.1122-1G>C | |
| NM_001329943.3:c.1254-1G>C MANE Select | NP_001316872.1:n.1254-1G>C | |
| NM_001329944.2:c.1254-1G>C | NP_001316873.1:n.1254-1G>C | |
| NM_001329945.2:c.999-1G>C | NP_001316874.1:n.999-1G>C | |
| NM_001329946.2:c.1254-1G>C | NP_001316875.1:n.1254-1G>C | |
| NM_001329947.2:c.1254-1G>C | NP_001316876.1:n.1254-1G>C | |
| NM_001364701.2:c.999-1G>C | NP_001351630.1:n.999-1G>C | |
| NM_014749.5:c.1254-1G>C | NP_055564.3:n.1254-1G>C | |
| NM_001244191.2:c.999-1G>C | NP_001231120.1:n.999-1G>C | |
| NM_001244193.2:c.834-1G>C | NP_001231122.1:n.834-1G>C |