Linked Data
dbSNP Id:
rs12946522
gnomAD v2:
17-56768103-T-G
gnomAD v3:
17-58690742-T-G
gnomAD v4:
17-58690742-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58690742T>G , CM000679.2:g.58690742T>G | GRCh38 |
| NC_000017.10:g.56768103T>G , CM000679.1:g.56768103T>G | GRCh37 |
| NC_000017.9:g.54123102T>G | NCBI36 |
| NG_023199.1:g.3141T>G , LRG_314:g.3141T>G | |
| NG_047169.1:g.6338A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000583666.3:c.-231+1197A>C (IGBP1C) MANE Select | ENSP00000492384.1:n.-231+1197A>C | |
| ENST00000349033.10:c.-2+1197A>C (TEX14) MANE Select | ENSP00000268910.8:n.-2+1197A>C | |
| ENST00000583666.2:c.-231+1197A>C (IGBP1C) | ENSP00000492384.1:n.-231+1197A>C | |
| ENST00000240361.12:c.-2+1197A>C (TEX14) | ENSP00000240361.8:n.-2+1197A>C | |
| ENST00000349033.9:c.-2+1197A>C (TEX14) | ENSP00000268910.8:n.-2+1197A>C | |
| ENST00000389934.7:c.-2+1197A>C (TEX14) | ENSP00000374584.3:n.-2+1197A>C | |
| ENST00000582740.1:c.-2+1197A>C (TEX14) | ENSP00000463593.1:n.-2+1197A>C | |
| NM_001201457.1:c.-2+1197A>C (TEX14) | NP_001188386.1:n.-2+1197A>C | |
| NM_031272.4:c.-2+1197A>C (TEX14) | NP_112562.3:n.-2+1197A>C | |
| NM_198393.3:c.-2+1197A>C (TEX14) | NP_938207.2:n.-2+1197A>C | |
| XM_011525028.1:c.-2+1197A>C (TEX14) | XP_011523330.1:n.-2+1197A>C | |
| XM_011525030.1:c.-2+1197A>C (TEX14) | XP_011523332.1:n.-2+1197A>C | |
| XM_011525031.1:c.-2+1197A>C (TEX14) | XP_011523333.1:n.-2+1197A>C | |
| XM_011525032.1:c.-2+1197A>C (TEX14) | XP_011523334.1:n.-2+1197A>C | |
| NM_001201457.2:c.-2+1197A>C (TEX14) | NP_001188386.1:n.-2+1197A>C | |
| NM_031272.5:c.-2+1197A>C (TEX14) MANE Select | NP_112562.3:n.-2+1197A>C | |
| NM_198393.4:c.-2+1197A>C (TEX14) | NP_938207.2:n.-2+1197A>C | |
| NM_001395966.1:c.-231+1197A>C (IGBP1C) MANE Select | NP_001382895.1:n.-231+1197A>C |