gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.26126397 (MID)
Genomes Max Group AF
0.2219039 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.26348561C>T , CM000670.2:g.26348561C>T | GRCh38 |
| NC_000008.10:g.26206077C>T , CM000670.1:g.26206077C>T | GRCh37 |
| NC_000008.9:g.26261994C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380737.8:c.181-5907C>T MANE Select | ENSP00000370113.3:n.181-5907C>T | |
| ENST00000657943.1:n.234-5907C>T | ||
| ENST00000660435.1:c.-297-5907C>T | ENSP00000499441.1:n.-297-5907C>T | |
| ENST00000665949.1:c.-262-5907C>T | ENSP00000499648.1:n.-262-5907C>T | |
| ENST00000667651.1:n.187-5907C>T | ||
| ENST00000315985.7:c.211-5907C>T | ENSP00000325074.7:n.211-5907C>T | |
| ENST00000380737.7:c.181-5907C>T | ENSP00000370113.3:n.181-5907C>T | |
| ENST00000518254.5:c.*145-5907C>T | ENSP00000428164.1:n.*145-5907C>T | |
| ENST00000518397.5:c.181-5907C>T | ENSP00000429279.1:n.181-5907C>T | |
| ENST00000519439.5:n.268-5907C>T | ||
| ENST00000519636.5:n.396-5907C>T | ||
| ENST00000520329.5:c.*164-5907C>T | ENSP00000428542.1:n.*164-5907C>T | |
| ENST00000520438.1:n.56-5907C>T | ||
| ENST00000521095.5:n.497-5907C>T | ||
| ENST00000521484.5:n.321-5907C>T | ||
| ENST00000521557.5:c.-297-5907C>T | ENSP00000428165.1:n.-297-5907C>T | |
| ENST00000522482.5:n.324-2038C>T | ||
| ENST00000522535.5:c.-297-5907C>T | ENSP00000428705.1:n.-297-5907C>T | |
| ENST00000523925.5:c.-297-5907C>T | ENSP00000428800.1:n.-297-5907C>T | |
| ENST00000523964.5:n.218-5907C>T | ||
| ENST00000524099.5:n.335-5907C>T | ||
| ENST00000524169.5:c.-77-12540C>T | ENSP00000430320.1:n.-77-12540C>T | |
| NM_001177591.1:c.211-5907C>T | NP_001171062.1:n.211-5907C>T | |
| NM_002717.3:c.181-5907C>T | NP_002708.1:n.181-5907C>T | |
| XM_005273559.1:c.178-5907C>T | XP_005273616.1:n.178-5907C>T | |
| XM_005273560.1:c.-297-5907C>T | XP_005273617.1:n.-297-5907C>T | |
| XM_011544565.1:c.208-5907C>T | XP_011542867.1:n.208-5907C>T | |
| XM_011544566.1:c.-297-5907C>T | XP_011542868.1:n.-297-5907C>T | |
| XM_011544567.1:c.-297-5907C>T | XP_011542869.1:n.-297-5907C>T | |
| XM_011544568.1:c.-297-5907C>T | XP_011542870.1:n.-297-5907C>T | |
| XM_011544569.1:c.-297-5907C>T | XP_011542871.1:n.-297-5907C>T | |
| XR_949430.1:n.869-5907C>T | ||
| XM_011544567.2:c.-297-5907C>T | XP_011542869.1:n.-297-5907C>T | |
| XM_024447186.1:c.121-5907C>T | XP_024302954.1:n.121-5907C>T | |
| XM_024447187.1:c.-297-5907C>T | XP_024302955.1:n.-297-5907C>T | |
| XR_002956638.1:n.478-5907C>T | ||
| XR_949430.3:n.869-5907C>T | ||
| NM_002717.4:c.181-5907C>T MANE Select | NP_002708.1:n.181-5907C>T | |
| NM_001177591.2:c.211-5907C>T | NP_001171062.1:n.211-5907C>T |