Linked Data
dbSNP Id:
rs10482605
gnomAD v2:
5-142783521-A-G
gnomAD v3:
5-143403956-A-G
gnomAD v4:
5-143403956-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.143403956A>G , CM000667.2:g.143403956A>G | GRCh38 |
| NC_000005.9:g.142783521A>G , CM000667.1:g.142783521A>G | GRCh37 |
| NC_000005.8:g.142763714A>G | NCBI36 |
| NG_009062.1:g.36557T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000343796.6:c.-13-3104T>C | ENSP00000343205.2:n.-13-3104T>C | |
| ENST00000394466.6:c.-14+30T>C | ENSP00000377979.2:n.-14+30T>C | |
| ENST00000502892.5:c.-14+663T>C | ENSP00000420856.1:n.-14+663T>C | |
| ENST00000503201.1:c.-14+420T>C | ENSP00000427672.1:n.-14+420T>C | |
| ENST00000504572.5:c.-13-3104T>C | ENSP00000422518.1:n.-13-3104T>C | |
| ENST00000514699.1:c.-14+1194T>C | ENSP00000426478.1:n.-14+1194T>C | |
| NM_001018074.1:c.-13-3104T>C | NP_001018084.1:n.-13-3104T>C | |
| NM_001018075.1:c.-13-3104T>C | NP_001018085.1:n.-13-3104T>C | |
| NM_001018076.1:c.-14+420T>C | NP_001018086.1:n.-14+420T>C | |
| NM_001018077.1:c.-13-3104T>C | NP_001018087.1:n.-13-3104T>C | |
| XM_005268419.2:c.-14+420T>C | XP_005268476.1:n.-14+420T>C | |
| XM_005268422.2:c.-13-3104T>C | XP_005268479.1:n.-13-3104T>C | |
| XM_005268423.2:c.-14+30T>C | XP_005268480.1:n.-14+30T>C | |
| NR_157096.1:n.107+420T>C | ||
| XM_005268419.4:c.-14+420T>C | XP_005268476.1:n.-14+420T>C | |
| XM_005268422.3:c.-13-3104T>C | XP_005268479.1:n.-13-3104T>C | |
| XM_005268423.3:c.-14+30T>C | XP_005268480.1:n.-14+30T>C | |
| XM_017009397.1:c.-14+30T>C | XP_016864886.1:n.-14+30T>C | |
| NM_001364180.1:c.-14+1194T>C | NP_001351109.1:n.-14+1194T>C | |
| NM_001364181.1:c.-14+30T>C | NP_001351110.1:n.-14+30T>C | |
| NM_001364183.1:c.-13-3104T>C | NP_001351112.1:n.-13-3104T>C | |
| NM_001364184.1:c.-14+420T>C | NP_001351113.1:n.-14+420T>C | |
| NM_001018076.2:c.-14+420T>C | NP_001018086.1:n.-14+420T>C | |
| NM_001364180.2:c.-14+1194T>C | NP_001351109.1:n.-14+1194T>C | |
| NM_001364181.2:c.-14+30T>C | NP_001351110.1:n.-14+30T>C | |
| NM_001364183.2:c.-13-3104T>C | NP_001351112.1:n.-13-3104T>C | |
| NM_001364184.2:c.-14+420T>C | NP_001351113.1:n.-14+420T>C | |
| NR_157096.2:n.107+420T>C |