Linked Data
dbSNP Id:
rs762232520
ExAC:
2:32361755 C / G
gnomAD v2:
2-32361755-C-G
gnomAD v3:
2-32136686-C-G
gnomAD v4:
2-32136686-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.32136686C>G , CM000664.2:g.32136686C>G | GRCh38 |
| NC_000002.11:g.32361755C>G , CM000664.1:g.32361755C>G | GRCh37 |
| NC_000002.10:g.32215259C>G | NCBI36 |
| NG_008730.1:g.78076C>G , LRG_714:g.78076C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704289.1:c.*981+48C>G | ENSP00000515816.1:n.*981+48C>G | |
| ENST00000315285.9:c.1321+48C>G MANE Select | ENSP00000320885.3:n.1321+48C>G | |
| ENST00000621856.2:c.1318+48C>G | ENSP00000482496.2:n.1318+48C>G | |
| ENST00000642281.1:c.1058+48C>G | ||
| ENST00000642455.1:c.1222+48C>G | ENSP00000493827.1:n.1222+48C>G | |
| ENST00000642751.1:c.1095+48C>G | ||
| ENST00000642999.1:c.1063+48C>G | ENSP00000496589.1:n.1063+48C>G | |
| ENST00000643327.1:c.480+48C>G | ||
| ENST00000643334.1:c.901+48C>G | ||
| ENST00000644408.1:c.1197+48C>G | ||
| ENST00000644954.1:c.967+48C>G | ENSP00000494312.1:n.967+48C>G | |
| ENST00000645159.1:n.2058+48C>G | ||
| ENST00000645671.1:c.771+48C>G | ||
| ENST00000645730.1:c.593-423C>G | ||
| ENST00000646082.1:c.967+48C>G | ||
| ENST00000646571.1:c.1225+48C>G | ENSP00000495015.1:n.1225+48C>G | |
| ENST00000647007.1:n.1013+48C>G | ||
| ENST00000647133.1:c.821+48C>G | ||
| ENST00000315285.7:c.1321+48C>G | ENSP00000320885.3:n.1321+48C>G | |
| ENST00000345662.5:c.1225+48C>G | ENSP00000340817.1:n.1225+48C>G | |
| ENST00000615843.4:c.1321+48C>G | ENSP00000480893.1:n.1321+48C>G | |
| ENST00000621856.1:c.1063+48C>G | ENSP00000482496.1:n.1063+48C>G | |
| NM_014946.3:c.1321+48C>G , LRG_714t1:c.1321+48C>G | NP_055761.2:n.1321+48C>G | |
| NM_199436.1:c.1225+48C>G | NP_955468.1:n.1225+48C>G | |
| XM_005264516.3:c.1318+48C>G | XP_005264573.1:n.1318+48C>G | |
| XM_011533067.1:c.1321+48C>G | XP_011531369.1:n.1321+48C>G | |
| NM_001363823.1:c.1318+48C>G | NP_001350752.1:n.1318+48C>G | |
| NM_001363875.1:c.1222+48C>G | NP_001350804.1:n.1222+48C>G | |
| XM_005264516.5:c.1318+48C>G | XP_005264573.1:n.1318+48C>G | |
| XM_011533067.2:c.1321+48C>G | XP_011531369.1:n.1321+48C>G | |
| XM_017004778.2:c.1225+48C>G | XP_016860267.1:n.1225+48C>G | |
| NM_001363823.2:c.1318+48C>G | NP_001350752.1:n.1318+48C>G | |
| NM_001363875.2:c.1222+48C>G | NP_001350804.1:n.1222+48C>G | |
| NM_001377959.1:c.1225+48C>G | NP_001364888.1:n.1225+48C>G | |
| NM_014946.4:c.1321+48C>G MANE Select | NP_055761.2:n.1321+48C>G | |
| NM_199436.2:c.1225+48C>G | NP_955468.1:n.1225+48C>G |