Linked Data
ClinVar Variation Id:
129787
ClinVar RCV Id:
RCV000117803
dbSNP Id:
rs2236316
ExAC:
14:51224417 G / C
gnomAD v2:
14-51224417-G-C
gnomAD v3:
14-50757699-G-C
gnomAD v4:
14-50757699-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50757699G>C , CM000676.2:g.50757699G>C | GRCh38 |
| NC_000014.8:g.51224417G>C , CM000676.1:g.51224417G>C | GRCh37 |
| NC_000014.7:g.50294167G>C | NCBI36 |
| NG_032968.1:g.78423C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000485005.2:c.2399+2158C>G | ENSP00000431485.2:n.2399+2158C>G | |
| ENST00000706705.1:c.1733+2158C>G | ENSP00000516508.1:n.1733+2158C>G | |
| ENST00000706706.1:c.2399+2158C>G | ENSP00000516509.1:n.2399+2158C>G | |
| ENST00000453196.6:c.3331C>G | ENSP00000412391.1:p.Pro1111Ala | |
| ENST00000530997.7:c.3331C>G MANE Select | ENSP00000436092.2:p.Pro1111Ala | |
| ENST00000673657.1:c.*1203+2158C>G | ENSP00000501199.1:n.*1203+2158C>G | |
| ENST00000674030.1:c.*666+2158C>G | ENSP00000501260.1:n.*666+2158C>G | |
| ENST00000245441.9:c.3331C>G | ENSP00000245441.5:p.Pro1111Ala | |
| ENST00000324330.13:c.2399+2158C>G | ENSP00000324210.10:n.2399+2158C>G | |
| ENST00000382041.7:c.3331C>G | ENSP00000371472.3:p.Pro1111Ala | |
| ENST00000382043.8:c.2399+2158C>G | ENSP00000371474.4:n.2399+2158C>G | |
| ENST00000389869.7:c.1802C>G | ||
| ENST00000453196.5:c.3331C>G | ENSP00000412391.1:p.Pro1111Ala | |
| ENST00000476352.5:c.3331C>G | ENSP00000432924.1:p.Pro1111Ala | |
| ENST00000530853.5:c.1802C>G | ||
| ENST00000530997.6:c.3331C>G | ENSP00000436092.2:p.Pro1111Ala | |
| NM_016350.4:c.2399+2158C>G | NP_057434.4:n.2399+2158C>G | |
| NM_020921.3:c.3331C>G | NP_065972.3:p.Pro1111Ala | |
| NM_182944.2:c.3331C>G | NP_891989.2:p.Pro1111Ala | |
| NM_182946.1:c.3331C>G | NP_891991.1:p.Pro1111Ala | |
| XM_005267735.3:c.2399+2158C>G | XP_005267792.1:n.2399+2158C>G | |
| XM_006720160.2:c.3331C>G | XP_006720223.2:p.Pro1111Ala | |
| XM_011536817.1:c.3421C>G | XP_011535119.1:p.Pro1141Ala | |
| XM_011536818.1:c.3331C>G | XP_011535120.1:p.Pro1111Ala | |
| XM_011536819.1:c.3421C>G | XP_011535121.1:p.Pro1141Ala | |
| XM_011536820.1:c.3421C>G | XP_011535122.1:p.Pro1141Ala | |
| XM_011536821.1:c.2665C>G | XP_011535123.1:p.Pro889Ala | |
| XM_011536822.1:c.2489+2158C>G | XP_011535124.1:n.2489+2158C>G | |
| XM_011536823.1:c.3349C>G | XP_011535125.1:p.Pro1117Ala | |
| XM_011536824.1:c.2399+2158C>G | XP_011535126.1:n.2399+2158C>G | |
| XM_011536819.3:c.3421C>G | XP_011535121.1:p.Pro1141Ala | |
| XM_011536822.2:c.2489+2158C>G | XP_011535124.1:n.2489+2158C>G | |
| XM_011536823.2:c.3349C>G | XP_011535125.1:p.Pro1117Ala | |
| XM_024449622.1:c.3421C>G | XP_024305390.1:p.Pro1141Ala | |
| XR_001750344.2:n.3619C>G | ||
| XR_001750345.2:n.3619C>G | ||
| XR_001750346.2:n.3541C>G | ||
| XR_001750347.2:n.2681+2158C>G | ||
| XR_001750348.2:n.2681+2158C>G | ||
| XR_001750349.2:n.2609+2158C>G | ||
| XR_001750350.2:n.2609+2158C>G | ||
| NM_016350.5:c.2399+2158C>G | NP_057434.4:n.2399+2158C>G | |
| NM_020921.4:c.3331C>G MANE Select | NP_065972.4:p.Pro1111Ala | |
| NM_182944.3:c.3331C>G | NP_891989.3:p.Pro1111Ala | |
| NM_182946.2:c.3331C>G | NP_891991.2:p.Pro1111Ala |