Linked Data
dbSNP Id:
rs2279913
gnomAD v2:
17-79168268-A-C
gnomAD v3:
17-81194468-A-C
gnomAD v4:
17-81194468-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.81194468A>C , CM000679.2:g.81194468A>C | GRCh38 |
| NC_000017.10:g.79168268A>C , CM000679.1:g.79168268A>C | GRCh37 |
| NC_000017.9:g.76782863A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000450824.7:c.2120-341T>G MANE Select | ENSP00000393583.2:n.2120-341T>G | |
| ENST00000269392.8:c.2129-341T>G | ENSP00000269392.4:n.2129-341T>G | |
| ENST00000374782.7:c.2120-341T>G | ENSP00000363914.3:n.2120-341T>G | |
| ENST00000450824.6:c.2120-341T>G | ENSP00000393583.2:n.2120-341T>G | |
| ENST00000573053.5:c.437-341T>G | ENSP00000460006.1:n.437-341T>G | |
| ENST00000575907.5:c.2129-341T>G | ENSP00000459733.1:n.2129-341T>G | |
| NM_001009811.2:c.2120-341T>G | NP_001009811.2:n.2120-341T>G | |
| NM_014984.2:c.2120-341T>G | NP_055799.2:n.2120-341T>G | |
| XM_011524547.1:c.2129-341T>G | XP_011522849.1:n.2129-341T>G | |
| XM_011524548.1:c.2120-341T>G | XP_011522850.1:n.2120-341T>G | |
| XM_011524549.1:c.2129-341T>G | XP_011522851.1:n.2129-341T>G | |
| XM_011524550.1:c.2129-341T>G | XP_011522852.1:n.2129-341T>G | |
| XM_011524551.1:c.2129-341T>G | XP_011522853.1:n.2129-341T>G | |
| XM_011524552.1:c.2129-341T>G | XP_011522854.1:n.2129-341T>G | |
| XM_011524553.1:c.2129-341T>G | XP_011522855.1:n.2129-341T>G | |
| XM_011524554.1:c.2129-341T>G | XP_011522856.1:n.2129-341T>G | |
| XM_011524555.1:c.2129-341T>G | XP_011522857.1:n.2129-341T>G | |
| NM_001009811.3:c.2120-341T>G | NP_001009811.2:n.2120-341T>G | |
| NM_001319228.1:c.2129-341T>G | NP_001306157.1:n.2129-341T>G | |
| NM_001319229.1:c.2129-341T>G | NP_001306158.1:n.2129-341T>G | |
| NM_014984.3:c.2120-341T>G | NP_055799.2:n.2120-341T>G | |
| XM_011524547.2:c.2129-341T>G | XP_011522849.1:n.2129-341T>G | |
| XM_011524548.2:c.2120-341T>G | XP_011522850.1:n.2120-341T>G | |
| XM_011524550.2:c.2129-341T>G | XP_011522852.1:n.2129-341T>G | |
| XM_011524551.2:c.2129-341T>G | XP_011522853.1:n.2129-341T>G | |
| XM_011524552.2:c.2129-341T>G | XP_011522854.1:n.2129-341T>G | |
| XM_011524553.2:c.2129-341T>G | XP_011522855.1:n.2129-341T>G | |
| XM_011524555.2:c.2129-341T>G | XP_011522857.1:n.2129-341T>G | |
| XM_017024369.1:c.2129-341T>G | XP_016879858.1:n.2129-341T>G | |
| NM_014984.4:c.2120-341T>G MANE Select | NP_055799.2:n.2120-341T>G | |
| NM_001009811.4:c.2120-341T>G | NP_001009811.2:n.2120-341T>G | |
| NM_001319228.2:c.2129-341T>G | NP_001306157.1:n.2129-341T>G | |
| NM_001319229.2:c.2129-341T>G | NP_001306158.1:n.2129-341T>G |