Linked Data
dbSNP Id:
rs1157099358
gnomAD v2:
2-219514704-G-A
gnomAD v3:
2-218649981-G-A
gnomAD v4:
2-218649981-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218649981G>A , CM000664.2:g.218649981G>A | GRCh38 |
| NC_000002.11:g.219514704G>A , CM000664.1:g.219514704G>A | GRCh37 |
| NC_000002.10:g.219222948G>A | NCBI36 |
| NG_033099.1:g.14560C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000411696.7:c.1048+378C>T MANE Select | ENSP00000398798.3:n.1048+378C>T | |
| ENST00000440934.2:c.1048+378C>T | ENSP00000415156.2:n.1048+378C>T | |
| ENST00000411696.6:c.448+378C>T | ENSP00000398798.2:n.448+378C>T | |
| ENST00000433921.5:c.*273+378C>T | ENSP00000405477.1:n.*273+378C>T | |
| ENST00000449707.5:c.448+378C>T | ENSP00000408643.1:n.448+378C>T | |
| ENST00000450765.5:c.*273+378C>T | ENSP00000397456.1:n.*273+378C>T | |
| NM_001105537.2:c.448+378C>T | NP_001099007.1:n.448+378C>T | |
| NR_073599.1:n.1195+378C>T | ||
| NR_073600.1:n.1028+378C>T | ||
| XM_006712730.2:c.1048+378C>T | XP_006712793.1:n.1048+378C>T | |
| XM_011511784.1:c.1048+378C>T | XP_011510086.1:n.1048+378C>T | |
| XM_011511785.1:c.1048+378C>T | XP_011510087.1:n.1048+378C>T | |
| XM_011511786.1:c.1048+378C>T | XP_011510088.1:n.1048+378C>T | |
| XM_011511787.1:c.1048+378C>T | XP_011510089.1:n.1048+378C>T | |
| XM_011511788.1:c.1048+378C>T | XP_011510090.1:n.1048+378C>T | |
| XM_011511789.1:c.448+378C>T | XP_011510091.1:n.448+378C>T | |
| NM_001366287.1:c.-42+378C>T | NP_001353216.1:n.-42+378C>T | |
| NM_001366288.1:c.-42+378C>T | NP_001353217.1:n.-42+378C>T | |
| NM_001366289.1:c.-42+378C>T | NP_001353218.1:n.-42+378C>T | |
| NM_001366290.1:c.1048+378C>T | NP_001353219.1:n.1048+378C>T | |
| NM_001366291.1:c.448+378C>T | NP_001353220.1:n.448+378C>T | |
| XM_006712730.3:c.1048+378C>T | XP_006712793.1:n.1048+378C>T | |
| XM_011511784.2:c.1048+378C>T | XP_011510086.1:n.1048+378C>T | |
| XM_011511785.2:c.1048+378C>T | XP_011510087.1:n.1048+378C>T | |
| XM_011511786.2:c.1048+378C>T | XP_011510088.1:n.1048+378C>T | |
| XM_011511787.2:c.1048+378C>T | XP_011510089.1:n.1048+378C>T | |
| XM_011511788.2:c.1048+378C>T | XP_011510090.1:n.1048+378C>T | |
| XM_011511789.2:c.448+378C>T | XP_011510091.1:n.448+378C>T | |
| NM_001105537.3:c.448+378C>T | NP_001099007.1:n.448+378C>T | |
| NM_001105537.4:c.448+378C>T | NP_001099007.1:n.448+378C>T | |
| NM_001366287.2:c.-42+378C>T | NP_001353216.1:n.-42+378C>T | |
| NM_001366288.2:c.-42+378C>T | NP_001353217.1:n.-42+378C>T | |
| NM_001366289.2:c.-42+378C>T | NP_001353218.1:n.-42+378C>T | |
| NM_001366290.3:c.1048+378C>T | NP_001353219.1:n.1048+378C>T | |
| NM_001366291.2:c.448+378C>T | NP_001353220.1:n.448+378C>T | |
| NM_001379659.1:c.1048+378C>T MANE Select | NP_001366588.1:n.1048+378C>T | |
| NM_001379660.1:c.1048+378C>T | NP_001366589.1:n.1048+378C>T | |
| NM_001379661.1:c.1048+378C>T | NP_001366590.1:n.1048+378C>T | |
| NM_001379662.1:c.448+378C>T | NP_001366591.1:n.448+378C>T |