Linked Data
dbSNP Id:
rs749131
gnomAD v2:
2-25529624-A-C
gnomAD v3:
2-25306755-A-C
gnomAD v4:
2-25306755-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.25306755A>C , CM000664.2:g.25306755A>C | GRCh38 |
| NC_000002.11:g.25529624A>C , CM000664.1:g.25529624A>C | GRCh37 |
| NC_000002.10:g.25383128A>C | NCBI36 |
| NG_029465.2:g.40836T>G , LRG_459:g.40836T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000321117.10:c.73-6512T>G MANE Select | ENSP00000324375.5:n.73-6512T>G | |
| ENST00000264709.7:c.73-6512T>G | ENSP00000264709.3:n.73-6512T>G | |
| ENST00000321117.9:c.73-6512T>G | ENSP00000324375.5:n.73-6512T>G | |
| ENST00000380756.7:c.73-6512T>G | ENSP00000370132.3:n.73-6512T>G | |
| ENST00000406659.3:c.73-6512T>G | ENSP00000384852.3:n.73-6512T>G | |
| NM_022552.4:c.73-6512T>G , LRG_459t1:c.73-6512T>G | NP_072046.2:n.73-6512T>G | |
| NM_175629.2:c.73-6512T>G , LRG_459t4:c.73-6512T>G | NP_783328.1:n.73-6512T>G | |
| NM_175630.1:c.73-6512T>G , LRG_459t3:c.73-6512T>G | NP_783329.1:n.73-6512T>G | |
| XM_005264175.3:c.73-6512T>G | XP_005264232.1:n.73-6512T>G | |
| XM_006711957.2:c.73-6512T>G | XP_006712020.1:n.73-6512T>G | |
| XM_011532663.1:c.-196-6512T>G | XP_011530965.1:n.-196-6512T>G | |
| XM_011532664.1:c.73-6512T>G | XP_011530966.1:n.73-6512T>G | |
| XM_011532668.1:c.73-6512T>G | XP_011530970.1:n.73-6512T>G | |
| NM_001320892.1:c.73-6512T>G | NP_001307821.1:n.73-6512T>G | |
| NR_135490.1:n.411-6512T>G | ||
| XM_005264175.5:c.73-6512T>G | XP_005264232.1:n.73-6512T>G | |
| XM_011532663.2:c.-196-6512T>G | XP_011530965.1:n.-196-6512T>G | |
| XM_011532664.2:c.73-6512T>G | XP_011530966.1:n.73-6512T>G | |
| XM_017003526.1:c.73-6512T>G | XP_016859015.1:n.73-6512T>G | |
| XR_001738657.1:n.350-6512T>G | ||
| NM_001320892.2:c.73-6512T>G | NP_001307821.1:n.73-6512T>G | |
| NR_135490.2:n.304-6512T>G | ||
| NM_022552.5:c.73-6512T>G MANE Select | NP_072046.2:n.73-6512T>G |