Linked Data
dbSNP Id:
rs1192749981
gnomAD v2:
16-392387-C-A
gnomAD v3:
16-342387-C-A
gnomAD v4:
16-342387-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.342387C>A , CM000678.2:g.342387C>A | GRCh38 |
| NC_000016.9:g.392387C>A , CM000678.1:g.392387C>A | GRCh37 |
| NC_000016.8:g.332388C>A | NCBI36 |
| NG_012267.1:g.15078G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262320.8:c.878+3761G>T MANE Select | ENSP00000262320.3:n.878+3761G>T | |
| ENST00000262320.7:c.878+3761G>T | ENSP00000262320.3:n.878+3761G>T | |
| ENST00000354866.7:c.878+3761G>T | ENSP00000346935.3:n.878+3761G>T | |
| ENST00000461023.5:n.175+3761G>T | ||
| ENST00000481769.1:n.305+9982G>T | ||
| NM_003502.3:c.878+3761G>T | NP_003493.1:n.878+3761G>T | |
| NM_181050.2:c.878+3761G>T | NP_851393.1:n.878+3761G>T | |
| XM_011522682.1:c.1025+3761G>T | XP_011520984.1:n.1025+3761G>T | |
| XM_011522683.1:c.1025+3761G>T | XP_011520985.1:n.1025+3761G>T | |
| XM_011522684.1:c.878+3761G>T | XP_011520986.1:n.878+3761G>T | |
| XM_011522685.1:c.62+12671G>T | XP_011520987.1:n.62+12671G>T | |
| XM_011522687.1:c.62+12671G>T | XP_011520989.1:n.62+12671G>T | |
| XM_011522688.1:c.-1120+3761G>T | XP_011520990.1:n.-1120+3761G>T | |
| NR_134879.1:n.1267+3761G>T | ||
| XM_011522682.2:c.1025+3761G>T | XP_011520984.1:n.1025+3761G>T | |
| XM_011522683.2:c.1025+3761G>T | XP_011520985.1:n.1025+3761G>T | |
| XM_011522684.2:c.878+3761G>T | XP_011520986.1:n.878+3761G>T | |
| XM_017023743.1:c.1025+3761G>T | XP_016879232.1:n.1025+3761G>T | |
| XM_017023744.1:c.1025+3761G>T | XP_016879233.1:n.1025+3761G>T | |
| XM_017023747.1:c.1025+3761G>T | XP_016879236.1:n.1025+3761G>T | |
| XM_017023748.1:c.1025+3761G>T | XP_016879237.1:n.1025+3761G>T | |
| XR_001751996.1:n.1280+3761G>T | ||
| NM_003502.4:c.878+3761G>T MANE Select | NP_003493.1:n.878+3761G>T | |
| NM_181050.3:c.878+3761G>T | NP_851393.1:n.878+3761G>T | |
| NR_134879.2:n.1314+3761G>T |