gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.55328667 (EAS)
Genomes Max Group AF
0.55328667 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.38874067C>A , CM000664.2:g.38874067C>A | GRCh38 |
| NC_000002.11:g.39101209C>A , CM000664.1:g.39101209C>A | GRCh37 |
| NC_000002.10:g.38954713C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000457308.6:c.-7+1720G>T MANE Select | ENSP00000405111.2:n.-7+1720G>T | |
| ENST00000457308.5:c.-7+1720G>T | ENSP00000405111.2:n.-7+1720G>T | |
| ENST00000474104.5:n.93+1720G>T | ||
| ENST00000619207.1:c.-83+1720G>T | ENSP00000479840.1:n.-83+1720G>T | |
| ENST00000622155.4:n.139+1720G>T | ||
| NM_198963.1:c.-7+1720G>T | NP_945314.1:n.-7+1720G>T | |
| XM_011533154.1:c.-7+1478G>T | XP_011531456.1:n.-7+1478G>T | |
| XM_011533155.1:c.-7+1500G>T | XP_011531457.1:n.-7+1500G>T | |
| XM_011533156.1:c.-7+1720G>T | XP_011531458.1:n.-7+1720G>T | |
| XM_011533157.1:c.-7+1720G>T | XP_011531459.1:n.-7+1720G>T | |
| XR_939740.1:n.97+1720G>T | ||
| NM_001329963.1:c.-180+1720G>T | NP_001316892.1:n.-180+1720G>T | |
| NM_198963.2:c.-7+1720G>T | NP_945314.1:n.-7+1720G>T | |
| XM_011533154.2:c.-7+1478G>T | XP_011531456.1:n.-7+1478G>T | |
| XM_011533155.2:c.-7+1500G>T | XP_011531457.1:n.-7+1500G>T | |
| XM_011533156.3:c.-7+1720G>T | XP_011531458.1:n.-7+1720G>T | |
| XR_001739030.2:n.97+1720G>T | ||
| XR_002959363.1:n.97+1720G>T | ||
| NM_198963.3:c.-7+1720G>T MANE Select | NP_945314.1:n.-7+1720G>T |