Linked Data
ClinVar Variation Id:
370235
ClinVar RCV Id:
RCV003114523
dbSNP Id:
rs1057516337
gnomAD v4:
15-34239162-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34239162T>C , CM000677.2:g.34239162T>C | GRCh38 |
| NC_000015.9:g.34531363T>C , CM000677.1:g.34531363T>C | GRCh37 |
| NC_000015.8:g.32318655T>C | NCBI36 |
| NG_007951.1:g.103903A>G , LRG_270:g.103903A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354181.8:c.2437-2A>G MANE Select | ENSP00000346112.3:n.2437-2A>G | |
| ENST00000676379.1:c.2437-2A>G | ENSP00000502539.1:n.2437-2A>G | |
| ENST00000290209.9:c.2284-2A>G | ENSP00000290209.5:n.2284-2A>G | |
| ENST00000354181.7:c.2437-2A>G | ENSP00000346112.3:n.2437-2A>G | |
| ENST00000397702.6:c.2260-2A>G | ENSP00000380814.2:n.2260-2A>G | |
| ENST00000397707.6:c.2392-2A>G | ENSP00000380819.2:n.2392-2A>G | |
| ENST00000458406.6:c.2260-2A>G | ENSP00000387725.2:n.2260-2A>G | |
| ENST00000558589.5:c.2410-2A>G | ENSP00000452776.1:n.2410-2A>G | |
| ENST00000558667.5:c.2437-2A>G | ENSP00000453473.1:n.2437-2A>G | |
| ENST00000558950.1:n.385-2A>G | ||
| ENST00000559523.5:c.2260-2A>G | ENSP00000452904.1:n.2260-2A>G | |
| ENST00000559664.5:c.2437-2A>G | ENSP00000453702.1:n.2437-2A>G | |
| ENST00000560164.5:c.1873-2A>G | ENSP00000452705.1:n.1873-2A>G | |
| ENST00000560611.5:c.2437-2A>G | ENSP00000454168.1:n.2437-2A>G | |
| ENST00000561080.5:c.2437-2A>G | ENSP00000454069.1:n.2437-2A>G | |
| NM_001042494.1:c.2260-2A>G | NP_001035959.1:n.2260-2A>G | |
| NM_001042495.1:c.2260-2A>G | NP_001035960.1:n.2260-2A>G | |
| NM_001042496.1:c.2410-2A>G | NP_001035961.1:n.2410-2A>G | |
| NM_001042497.1:c.2392-2A>G | NP_001035962.1:n.2392-2A>G | |
| NM_005135.2:c.2284-2A>G , LRG_270t1:c.2284-2A>G | NP_005126.1:n.2284-2A>G | |
| NM_133647.1:c.2437-2A>G , LRG_270t2:c.2437-2A>G | NP_598408.1:n.2437-2A>G | |
| XM_006720793.2:c.2290-2A>G | XP_006720856.1:n.2290-2A>G | |
| XM_011522267.1:c.2437-2A>G | XP_011520569.1:n.2437-2A>G | |
| XM_011522268.1:c.2437-2A>G | XP_011520570.1:n.2437-2A>G | |
| XR_429476.2:n.2443-2A>G | ||
| XR_931960.1:n.2443-2A>G | ||
| XR_931961.1:n.2444-2A>G | ||
| NM_001365088.1:c.2437-2A>G MANE Select | NP_001352017.1:n.2437-2A>G | |
| XM_006720793.4:c.2290-2A>G | XP_006720856.1:n.2290-2A>G | |
| XR_931960.3:n.3687-2A>G | ||
| NM_001042494.2:c.2260-2A>G | NP_001035959.1:n.2260-2A>G | |
| NM_001042495.2:c.2260-2A>G | NP_001035960.1:n.2260-2A>G | |
| NM_001042496.2:c.2410-2A>G | NP_001035961.1:n.2410-2A>G | |
| NM_001042497.2:c.2392-2A>G | NP_001035962.1:n.2392-2A>G | |
| NM_133647.2:c.2437-2A>G | NP_598408.1:n.2437-2A>G |