Linked Data
dbSNP Id:
rs370681
gnomAD v2:
16-392461-C-T
gnomAD v3:
16-342461-C-T
gnomAD v4:
16-342461-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.342461C>T , CM000678.2:g.342461C>T | GRCh38 |
| NC_000016.9:g.392461C>T , CM000678.1:g.392461C>T | GRCh37 |
| NC_000016.8:g.332462C>T | NCBI36 |
| NG_012267.1:g.15004G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262320.8:c.878+3687G>A MANE Select | ENSP00000262320.3:n.878+3687G>A | |
| ENST00000262320.7:c.878+3687G>A | ENSP00000262320.3:n.878+3687G>A | |
| ENST00000354866.7:c.878+3687G>A | ENSP00000346935.3:n.878+3687G>A | |
| ENST00000461023.5:n.175+3687G>A | ||
| ENST00000481769.1:n.305+9908G>A | ||
| NM_003502.3:c.878+3687G>A | NP_003493.1:n.878+3687G>A | |
| NM_181050.2:c.878+3687G>A | NP_851393.1:n.878+3687G>A | |
| XM_011522682.1:c.1025+3687G>A | XP_011520984.1:n.1025+3687G>A | |
| XM_011522683.1:c.1025+3687G>A | XP_011520985.1:n.1025+3687G>A | |
| XM_011522684.1:c.878+3687G>A | XP_011520986.1:n.878+3687G>A | |
| XM_011522685.1:c.62+12597G>A | XP_011520987.1:n.62+12597G>A | |
| XM_011522687.1:c.62+12597G>A | XP_011520989.1:n.62+12597G>A | |
| XM_011522688.1:c.-1120+3687G>A | XP_011520990.1:n.-1120+3687G>A | |
| NR_134879.1:n.1267+3687G>A | ||
| XM_011522682.2:c.1025+3687G>A | XP_011520984.1:n.1025+3687G>A | |
| XM_011522683.2:c.1025+3687G>A | XP_011520985.1:n.1025+3687G>A | |
| XM_011522684.2:c.878+3687G>A | XP_011520986.1:n.878+3687G>A | |
| XM_017023743.1:c.1025+3687G>A | XP_016879232.1:n.1025+3687G>A | |
| XM_017023744.1:c.1025+3687G>A | XP_016879233.1:n.1025+3687G>A | |
| XM_017023747.1:c.1025+3687G>A | XP_016879236.1:n.1025+3687G>A | |
| XM_017023748.1:c.1025+3687G>A | XP_016879237.1:n.1025+3687G>A | |
| XR_001751996.1:n.1280+3687G>A | ||
| NM_003502.4:c.878+3687G>A MANE Select | NP_003493.1:n.878+3687G>A | |
| NM_181050.3:c.878+3687G>A | NP_851393.1:n.878+3687G>A | |
| NR_134879.2:n.1314+3687G>A |