gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.41198191 (MID)
Genomes Max Group AF
0.40639604 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.121500382C>G , CM000674.2:g.121500382C>G | GRCh38 |
| NC_000012.11:g.121938185C>G , CM000674.1:g.121938185C>G | GRCh37 |
| NC_000012.10:g.120422568C>G | NCBI36 |
| NG_033820.1:g.85634G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377071.9:c.1648-5717G>C MANE Select | ENSP00000366271.3:n.1648-5717G>C | |
| ENST00000377069.8:c.1555-5717G>C | ENSP00000366269.3:n.1555-5717G>C | |
| ENST00000377071.8:c.1648-5717G>C | ENSP00000366271.3:n.1648-5717G>C | |
| ENST00000536437.5:c.1648-5717G>C | ENSP00000445196.2:n.1648-5717G>C | |
| ENST00000538046.6:c.1378-5717G>C | ENSP00000474307.1:n.1378-5717G>C | |
| ENST00000538503.5:n.1252-5717G>C | ||
| ENST00000542973.5:c.-249-5717G>C | ENSP00000437821.1:n.-249-5717G>C | |
| ENST00000543025.5:c.*1254-5717G>C | ENSP00000438138.1:n.*1254-5717G>C | |
| ENST00000611216.4:c.1297-5717G>C | ENSP00000480847.1:n.1297-5717G>C | |
| NM_001005366.1:c.1555-5717G>C | NP_001005366.1:n.1555-5717G>C | |
| NM_032590.4:c.1648-5717G>C | NP_115979.3:n.1648-5717G>C | |
| XM_005253955.2:c.1555-5717G>C | XP_005254012.1:n.1555-5717G>C | |
| XM_005253956.2:c.1537-5717G>C | XP_005254013.1:n.1537-5717G>C | |
| XM_011538860.1:c.1648-5717G>C | XP_011537162.1:n.1648-5717G>C | |
| XM_011538861.1:c.1648-5717G>C | XP_011537163.1:n.1648-5717G>C | |
| XM_011538862.1:c.1585-5717G>C | XP_011537164.1:n.1585-5717G>C | |
| XM_011538863.1:c.1561-5717G>C | XP_011537165.1:n.1561-5717G>C | |
| XM_011538864.1:c.1555-5717G>C | XP_011537166.1:n.1555-5717G>C | |
| XM_011538865.1:c.1537-5717G>C | XP_011537167.1:n.1537-5717G>C | |
| XM_011538866.1:c.1648-5717G>C | XP_011537168.1:n.1648-5717G>C | |
| XM_011538867.1:c.1648-5717G>C | XP_011537169.1:n.1648-5717G>C | |
| XM_011538868.1:c.1648-5717G>C | XP_011537170.1:n.1648-5717G>C | |
| XM_011538869.1:c.1648-5717G>C | XP_011537171.1:n.1648-5717G>C | |
| XM_011538870.1:c.1591-5717G>C | XP_011537172.1:n.1591-5717G>C | |
| XM_011538871.1:c.955-5717G>C | XP_011537173.1:n.955-5717G>C | |
| XM_011538872.1:c.565-5717G>C | XP_011537174.1:n.565-5717G>C | |
| XR_944787.1:n.1721-5717G>C | ||
| XM_005253955.4:c.1555-5717G>C | XP_005254012.1:n.1555-5717G>C | |
| XM_005253956.4:c.1537-5717G>C | XP_005254013.1:n.1537-5717G>C | |
| XM_011538867.3:c.1648-5717G>C | XP_011537169.1:n.1648-5717G>C | |
| XM_011538868.3:c.1648-5717G>C | XP_011537170.1:n.1648-5717G>C | |
| XM_011538869.2:c.1648-5717G>C | XP_011537171.1:n.1648-5717G>C | |
| NM_032590.5:c.1648-5717G>C MANE Select | NP_115979.3:n.1648-5717G>C | |
| NM_001005366.2:c.1555-5717G>C | NP_001005366.1:n.1555-5717G>C |