gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.1203528 (SAS)
Genomes Max Group AF
0.1203528 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.127034996G>A , CM000669.2:g.127034996G>A | GRCh38 |
| NC_000007.13:g.126675050G>A , CM000669.1:g.126675050G>A | GRCh37 |
| NC_000007.12:g.126462286G>A | NCBI36 |
| NG_029532.1:g.222379C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358373.8:c.727+71500C>T | ENSP00000351142.3:n.727+71500C>T | |
| ENST00000706915.1:c.727+71500C>T | ENSP00000516623.1:n.727+71500C>T | |
| ENST00000706916.1:c.727+71500C>T | ENSP00000516624.1:n.727+71500C>T | |
| ENST00000706917.1:c.727+71500C>T | ENSP00000516625.1:n.727+71500C>T | |
| ENST00000339582.7:c.727+71500C>T MANE Select | ENSP00000344173.2:n.727+71500C>T | |
| ENST00000339582.6:c.727+71500C>T | ENSP00000344173.2:n.727+71500C>T | |
| ENST00000341617.7:c.727+71500C>T | ENSP00000345747.3:n.727+71500C>T | |
| ENST00000358373.7:c.727+71500C>T | ENSP00000351142.3:n.727+71500C>T | |
| ENST00000448250.6:n.269+71500C>T | ||
| ENST00000457830.1:c.727+71500C>T | ENSP00000415522.1:n.727+71500C>T | |
| ENST00000472701.5:c.727+71500C>T | ENSP00000419832.1:n.727+71500C>T | |
| ENST00000480995.5:n.444+70300C>T | ||
| NM_000845.2:c.727+71500C>T | NP_000836.2:n.727+71500C>T | |
| NM_001127323.1:c.727+71500C>T | NP_001120795.1:n.727+71500C>T | |
| NR_028041.1:n.1038+71500C>T | ||
| XM_006715938.2:c.727+71500C>T | XP_006716001.1:n.727+71500C>T | |
| XM_011516091.1:c.727+71500C>T | XP_011514393.1:n.727+71500C>T | |
| XM_011516092.1:c.727+71500C>T | XP_011514394.1:n.727+71500C>T | |
| XM_011516093.1:c.727+71500C>T | XP_011514395.1:n.727+71500C>T | |
| XM_011516094.1:c.244+71500C>T | XP_011514396.1:n.244+71500C>T | |
| XM_011516095.1:c.145+71500C>T | XP_011514397.1:n.145+71500C>T | |
| XM_011516096.1:c.112+71500C>T | XP_011514398.1:n.112+71500C>T | |
| XM_011516097.1:c.112+71500C>T | XP_011514399.1:n.112+71500C>T | |
| XM_011516098.1:c.112+71500C>T | XP_011514400.1:n.112+71500C>T | |
| XM_011516099.1:c.112+71500C>T | XP_011514401.1:n.112+71500C>T | |
| XM_011516100.1:c.112+71500C>T | XP_011514402.1:n.112+71500C>T | |
| XM_011516101.1:c.112+71500C>T | XP_011514403.1:n.112+71500C>T | |
| XM_011516102.1:c.112+71500C>T | XP_011514404.1:n.112+71500C>T | |
| XM_011516103.1:c.-111+70300C>T | XP_011514405.1:n.-111+70300C>T | |
| XM_011516105.1:c.-325+21322C>T | XP_011514407.1:n.-325+21322C>T | |
| XM_011516106.1:c.-325+70300C>T | XP_011514408.1:n.-325+70300C>T | |
| XM_011516107.1:c.-111+22983C>T | XP_011514409.1:n.-111+22983C>T | |
| XM_006715938.4:c.727+71500C>T | XP_006716001.1:n.727+71500C>T | |
| XM_011516091.2:c.727+71500C>T | XP_011514393.1:n.727+71500C>T | |
| XM_011516092.3:c.727+71500C>T | XP_011514394.1:n.727+71500C>T | |
| XM_011516095.2:c.145+71500C>T | XP_011514397.1:n.145+71500C>T | |
| XM_011516101.2:c.112+71500C>T | XP_011514403.1:n.112+71500C>T | |
| XM_011516102.2:c.112+71500C>T | XP_011514404.1:n.112+71500C>T | |
| XM_011516103.2:c.-111+70300C>T | XP_011514405.1:n.-111+70300C>T | |
| XM_017012074.1:c.727+71500C>T | XP_016867563.1:n.727+71500C>T | |
| XM_017012075.1:c.112+71500C>T | XP_016867564.1:n.112+71500C>T | |
| XM_017012076.1:c.112+71500C>T | XP_016867565.1:n.112+71500C>T | |
| XM_017012077.1:c.112+71500C>T | XP_016867566.1:n.112+71500C>T | |
| XM_017012078.1:c.112+71500C>T | XP_016867567.1:n.112+71500C>T | |
| XM_017012079.1:c.112+71500C>T | XP_016867568.1:n.112+71500C>T | |
| NM_000845.3:c.727+71500C>T MANE Select | NP_000836.2:n.727+71500C>T | |
| NM_001371083.1:c.727+71500C>T | NP_001358012.1:n.727+71500C>T | |
| NM_001371084.1:c.727+71500C>T | NP_001358013.1:n.727+71500C>T | |
| NM_001371085.1:c.727+71500C>T | NP_001358014.1:n.727+71500C>T | |
| NM_001371086.1:c.727+71500C>T | NP_001358015.1:n.727+71500C>T | |
| NM_001371087.1:c.112+71500C>T | NP_001358016.1:n.112+71500C>T | |
| NM_001371088.1:c.727+71500C>T | NP_001358017.1:n.727+71500C>T | |
| NR_163849.1:n.1183+71500C>T | ||
| NR_163850.1:n.362+71500C>T |