Linked Data
ClinVar Variation Id:
194884
dbSNP Id:
rs2073347
ExAC:
14:51223789 C / T
gnomAD v2:
14-51223789-C-T
gnomAD v3:
14-50757071-C-T
gnomAD v4:
14-50757071-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50757071C>T , CM000676.2:g.50757071C>T | GRCh38 |
| NC_000014.8:g.51223789C>T , CM000676.1:g.51223789C>T | GRCh37 |
| NC_000014.7:g.50293539C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000485005.2:c.2400-2204G>A | ENSP00000431485.2:n.2400-2204G>A | |
| ENST00000706705.1:c.1734-2204G>A | ENSP00000516508.1:n.1734-2204G>A | |
| ENST00000706706.1:c.2400-2204G>A | ENSP00000516509.1:n.2400-2204G>A | |
| ENST00000453196.6:c.3959G>A | ENSP00000412391.1:p.Gly1320Glu | |
| ENST00000530997.7:c.3959G>A MANE Select | ENSP00000436092.2:p.Gly1320Glu | |
| ENST00000673657.1:c.*1204-2204G>A | ENSP00000501199.1:n.*1204-2204G>A | |
| ENST00000674030.1:c.*667-2204G>A | ENSP00000501260.1:n.*667-2204G>A | |
| ENST00000245441.9:c.3959G>A | ENSP00000245441.5:p.Gly1320Glu | |
| ENST00000324330.13:c.2400-2204G>A | ENSP00000324210.10:n.2400-2204G>A | |
| ENST00000382041.7:c.3959G>A | ENSP00000371472.3:p.Gly1320Glu | |
| ENST00000382043.8:c.2400-2204G>A | ENSP00000371474.4:n.2400-2204G>A | |
| ENST00000389869.7:c.2430G>A | ||
| ENST00000453196.5:c.3959G>A | ENSP00000412391.1:p.Gly1320Glu | |
| ENST00000476352.5:c.3959G>A | ENSP00000432924.1:p.Gly1320Glu | |
| ENST00000530853.5:c.2430G>A | ||
| ENST00000530997.6:c.3959G>A | ENSP00000436092.2:p.Gly1320Glu | |
| NM_016350.4:c.2400-2204G>A | NP_057434.4:n.2400-2204G>A | |
| XM_005267735.3:c.2400-2204G>A | XP_005267792.1:n.2400-2204G>A | |
| XM_006720160.2:c.3959G>A | XP_006720223.2:p.Gly1320Glu | |
| XM_011536817.1:c.4049G>A | XP_011535119.1:p.Gly1350Glu | |
| XM_011536818.1:c.3959G>A | XP_011535120.1:p.Gly1320Glu | |
| XM_011536819.1:c.4049G>A | XP_011535121.1:p.Gly1350Glu | |
| XM_011536820.1:c.4049G>A | XP_011535122.1:p.Gly1350Glu | |
| XM_011536821.1:c.3293G>A | XP_011535123.1:p.Gly1098Glu | |
| XM_011536822.1:c.2490-2204G>A | XP_011535124.1:n.2490-2204G>A | |
| XM_011536823.1:c.3977G>A | XP_011535125.1:p.Gly1326Glu | |
| XM_011536824.1:c.2400-2204G>A | XP_011535126.1:n.2400-2204G>A | |
| XM_011536819.3:c.4049G>A | XP_011535121.1:p.Gly1350Glu | |
| XM_011536822.2:c.2490-2204G>A | XP_011535124.1:n.2490-2204G>A | |
| XM_011536823.2:c.3977G>A | XP_011535125.1:p.Gly1326Glu | |
| XM_024449622.1:c.4049G>A | XP_024305390.1:p.Gly1350Glu | |
| XR_001750344.2:n.4247G>A | ||
| XR_001750345.2:n.4247G>A | ||
| XR_001750346.2:n.4169G>A | ||
| XR_001750347.2:n.2682-2204G>A | ||
| XR_001750348.2:n.2682-2204G>A | ||
| XR_001750349.2:n.2610-2204G>A | ||
| XR_001750350.2:n.2610-2204G>A | ||
| NM_016350.5:c.2400-2204G>A | NP_057434.4:n.2400-2204G>A | |
| NM_020921.4:c.3959G>A MANE Select | NP_065972.4:p.Gly1320Glu | |
| NM_182944.3:c.3959G>A | NP_891989.3:p.Gly1320Glu | |
| NM_182946.2:c.3959G>A | NP_891991.2:p.Gly1320Glu |