Linked Data
dbSNP Id:
rs12995399
gnomAD v2:
2-223137001-T-C
gnomAD v3:
2-222272282-T-C
gnomAD v4:
2-222272282-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.222272282T>C , CM000664.2:g.222272282T>C | GRCh38 |
| NC_000002.11:g.223137001T>C , CM000664.1:g.223137001T>C | GRCh37 |
| NC_000002.10:g.222845245T>C | NCBI36 |
| NG_011632.1:g.31700A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000336840.11:c.586+21885A>G | ENSP00000338767.5:n.586+21885A>G | |
| ENST00000344493.9:c.586+21885A>G | ENSP00000342092.4:n.586+21885A>G | |
| ENST00000350526.9:c.586+21885A>G | ENSP00000343052.4:n.586+21885A>G | |
| ENST00000392070.7:c.586+21885A>G MANE Select | ENSP00000375922.3:n.586+21885A>G | |
| ENST00000644490.1:n.183-7157A>G | ||
| ENST00000647467.1:n.968-7157A>G | ||
| ENST00000336840.10:c.586+21885A>G | ENSP00000338767.5:n.586+21885A>G | |
| ENST00000344493.8:c.586+21885A>G | ENSP00000342092.4:n.586+21885A>G | |
| ENST00000350526.8:c.586+21885A>G | ENSP00000343052.4:n.586+21885A>G | |
| ENST00000392069.6:c.586+21885A>G | ENSP00000375921.2:n.586+21885A>G | |
| ENST00000392070.6:c.586+21885A>G | ENSP00000375922.2:n.586+21885A>G | |
| ENST00000409551.7:c.583+21885A>G | ENSP00000386750.3:n.583+21885A>G | |
| NM_001127366.2:c.583+21885A>G | NP_001120838.1:n.583+21885A>G | |
| NM_181457.3:c.586+21885A>G | NP_852122.1:n.586+21885A>G | |
| NM_181458.3:c.586+21885A>G | NP_852123.1:n.586+21885A>G | |
| NM_181459.3:c.586+21885A>G | NP_852124.1:n.586+21885A>G | |
| NM_181460.3:c.586+21885A>G | NP_852125.1:n.586+21885A>G | |
| NM_181461.3:c.586+21885A>G | NP_852126.1:n.586+21885A>G | |
| XM_011511278.1:c.730+21885A>G | XP_011509580.1:n.730+21885A>G | |
| XM_011511280.1:c.731-7157A>G | XP_011509582.1:n.731-7157A>G | |
| NM_001127366.3:c.583+21885A>G | NP_001120838.1:n.583+21885A>G | |
| NM_181457.4:c.586+21885A>G | NP_852122.1:n.586+21885A>G | |
| NM_181458.4:c.586+21885A>G MANE Select | NP_852123.1:n.586+21885A>G | |
| NM_181459.4:c.586+21885A>G | NP_852124.1:n.586+21885A>G | |
| NM_181460.4:c.586+21885A>G | NP_852125.1:n.586+21885A>G | |
| NM_181461.4:c.586+21885A>G | NP_852126.1:n.586+21885A>G |