Linked Data
ClinVar Variation Id:
424017
dbSNP Id:
rs752709426
ExAC:
14:58894954 A / C
gnomAD v2:
14-58894954-A-C
gnomAD v4:
14-58428236-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.58428236A>C , CM000676.2:g.58428236A>C | GRCh38 |
| NC_000014.8:g.58894954A>C , CM000676.1:g.58894954A>C | GRCh37 |
| NC_000014.7:g.57964707A>C | NCBI36 |
| NG_051335.2:g.5852A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000619722.5:c.-57+599A>C | ENSP00000481936.1:n.-57+599A>C | |
| ENST00000650845.1:n.518A>C | ||
| ENST00000650904.1:c.-29A>C | ENSP00000498606.1:n.-29A>C | |
| ENST00000651937.1:c.-74A>C | ENSP00000498785.1:n.-74A>C | |
| ENST00000652326.2:c.-29A>C MANE Select | ENSP00000498929.1:n.-29A>C | |
| ENST00000652732.1:c.-57+423A>C | ENSP00000498799.1:n.-57+423A>C | |
| ENST00000261244.9:c.-29A>C | ENSP00000261244.5:n.-29A>C | |
| ENST00000354386.10:c.10-2A>C | ENSP00000346359.6:n.10-2A>C | |
| ENST00000423743.7:c.-57+599A>C | ENSP00000399427.3:n.-57+599A>C | |
| ENST00000554463.5:c.-57+379A>C | ENSP00000451831.1:n.-57+379A>C | |
| ENST00000555203.5:c.-57+423A>C | ENSP00000452536.1:n.-57+423A>C | |
| ENST00000555833.5:c.-57+423A>C | ENSP00000450855.1:n.-57+423A>C | |
| ENST00000556134.5:c.-248-36A>C | ENSP00000452351.2:n.-248-36A>C | |
| ENST00000557192.1:n.92+423A>C | ||
| ENST00000619416.4:c.-38-36A>C | ENSP00000478083.1:n.-38-36A>C | |
| ENST00000619722.4:c.-57+599A>C | ENSP00000481936.1:n.-57+599A>C | |
| NM_001244189.1:c.10-2A>C | NP_001231118.1:n.10-2A>C | |
| NM_001244190.1:c.-38-36A>C | NP_001231119.1:n.-38-36A>C | |
| NM_001244191.1:c.-57+599A>C | NP_001231120.1:n.-57+599A>C | |
| NM_001244192.1:c.-57+599A>C | NP_001231121.1:n.-57+599A>C | |
| NM_014749.3:c.-29A>C | NP_055564.3:n.-29A>C | |
| NM_001329943.2:c.-29A>C | NP_001316872.1:n.-29A>C | |
| NM_001329944.1:c.-29A>C | NP_001316873.1:n.-29A>C | |
| NM_001329945.1:c.-57+423A>C | NP_001316874.1:n.-57+423A>C | |
| NM_001329946.1:c.-29A>C | NP_001316875.1:n.-29A>C | |
| NM_001329947.1:c.-29A>C | NP_001316876.1:n.-29A>C | |
| NM_001364700.1:c.-57+423A>C | NP_001351629.1:n.-57+423A>C | |
| NM_001364701.1:c.-57+423A>C | NP_001351630.1:n.-57+423A>C | |
| NM_014749.4:c.-29A>C | NP_055564.3:n.-29A>C | |
| XM_024449779.1:c.-29A>C | XP_024305547.1:n.-29A>C | |
| XM_024449780.1:c.-29A>C | XP_024305548.1:n.-29A>C | |
| XM_024449781.1:c.-29A>C | XP_024305549.1:n.-29A>C | |
| XM_024449782.1:c.-57+379A>C | XP_024305550.1:n.-57+379A>C | |
| XM_024449783.1:c.-57+423A>C | XP_024305551.1:n.-57+423A>C | |
| XM_024449784.1:c.-57+599A>C | XP_024305552.1:n.-57+599A>C | |
| XM_024449785.1:c.-57+423A>C | XP_024305553.1:n.-57+423A>C | |
| XM_024449791.1:c.-29A>C | XP_024305559.1:n.-29A>C | |
| NM_001244189.2:c.10-2A>C | NP_001231118.1:n.10-2A>C | |
| NM_001244190.2:c.-38-36A>C | NP_001231119.1:n.-38-36A>C | |
| NM_001244192.2:c.-57+599A>C | NP_001231121.1:n.-57+599A>C | |
| NM_001329943.3:c.-29A>C MANE Select | NP_001316872.1:n.-29A>C | |
| NM_001329944.2:c.-29A>C | NP_001316873.1:n.-29A>C | |
| NM_001329945.2:c.-57+423A>C | NP_001316874.1:n.-57+423A>C | |
| NM_001329946.2:c.-29A>C | NP_001316875.1:n.-29A>C | |
| NM_001329947.2:c.-29A>C | NP_001316876.1:n.-29A>C | |
| NM_001364701.2:c.-57+423A>C | NP_001351630.1:n.-57+423A>C | |
| NM_014749.5:c.-29A>C | NP_055564.3:n.-29A>C | |
| NM_001244191.2:c.-57+599A>C | NP_001231120.1:n.-57+599A>C |