gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.27615736 (NFE)
Genomes Max Group AF
0.27615736 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.172084147T>C , CM000663.2:g.172084147T>C | GRCh38 |
| NC_000001.10:g.172053287T>C , CM000663.1:g.172053287T>C | GRCh37 |
| NC_000001.9:g.170319910T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000485254.3:c.1493+2245T>C | ENSP00000429165.2:n.1493+2245T>C | |
| ENST00000688173.1:c.1163+2245T>C | ENSP00000509172.1:n.1163+2245T>C | |
| ENST00000627582.3:c.1493+2245T>C MANE Select | ENSP00000486701.1:n.1493+2245T>C | |
| ENST00000355305.9:c.1493+2245T>C | ENSP00000347457.5:n.1493+2245T>C | |
| ENST00000367731.5:c.1493+2245T>C | ENSP00000356705.1:n.1493+2245T>C | |
| ENST00000367733.6:c.1493+2245T>C | ENSP00000356707.2:n.1493+2245T>C | |
| ENST00000520906.5:c.1493+2245T>C | ENSP00000429701.1:n.1493+2245T>C | |
| ENST00000523513.1:c.1163+2245T>C | ENSP00000429416.1:n.1163+2245T>C | |
| ENST00000627582.2:c.1493+2245T>C | ENSP00000486701.1:n.1493+2245T>C | |
| NM_001136127.2:c.1493+2245T>C | NP_001129599.1:n.1493+2245T>C | |
| NM_001278252.1:c.1493+2245T>C | NP_001265181.1:n.1493+2245T>C | |
| NM_015569.4:c.1493+2245T>C | NP_056384.2:n.1493+2245T>C | |
| XM_005245079.1:c.1493+2245T>C | XP_005245136.1:n.1493+2245T>C | |
| XM_005245080.1:c.1493+2245T>C | XP_005245137.1:n.1493+2245T>C | |
| XM_005245081.1:c.1493+2245T>C | XP_005245138.1:n.1493+2245T>C | |
| XM_005245082.3:c.1163+2245T>C | XP_005245139.1:n.1163+2245T>C | |
| XM_005245084.3:c.1493+2245T>C | XP_005245141.1:n.1493+2245T>C | |
| XM_006711268.2:c.1493+2245T>C | XP_006711331.1:n.1493+2245T>C | |
| XM_011509400.1:c.1493+2245T>C | XP_011507702.1:n.1493+2245T>C | |
| XM_011509401.1:c.1493+2245T>C | XP_011507703.1:n.1493+2245T>C | |
| XM_011509402.1:c.1493+2245T>C | XP_011507704.1:n.1493+2245T>C | |
| NM_001350204.1:c.1493+2245T>C | NP_001337133.1:n.1493+2245T>C | |
| NM_001350205.1:c.1493+2245T>C | NP_001337134.1:n.1493+2245T>C | |
| NM_001350206.1:c.1493+2245T>C | NP_001337135.1:n.1493+2245T>C | |
| NR_146559.1:n.1672+2245T>C | ||
| XM_017000976.1:c.1493+2245T>C | XP_016856465.1:n.1493+2245T>C | |
| XM_017000977.1:c.1493+2245T>C | XP_016856466.1:n.1493+2245T>C | |
| XM_017000978.1:c.1493+2245T>C | XP_016856467.1:n.1493+2245T>C | |
| XM_017000979.1:c.1493+2245T>C | XP_016856468.1:n.1493+2245T>C | |
| XM_017000980.1:c.1364+2245T>C | XP_016856469.1:n.1364+2245T>C | |
| XM_017000982.2:c.1493+2245T>C | XP_016856471.1:n.1493+2245T>C | |
| XM_017000983.1:c.1493+2245T>C | XP_016856472.1:n.1493+2245T>C | |
| XM_017000984.1:c.1493+2245T>C | XP_016856473.1:n.1493+2245T>C | |
| XM_017000985.1:c.1493+2245T>C | XP_016856474.1:n.1493+2245T>C | |
| XM_017000986.1:c.1364+2245T>C | XP_016856475.1:n.1364+2245T>C | |
| XM_017000987.1:c.1163+2245T>C | XP_016856476.1:n.1163+2245T>C | |
| XM_017000988.1:c.1493+2245T>C | XP_016856477.1:n.1493+2245T>C | |
| XM_017000989.1:c.1493+2245T>C | XP_016856478.1:n.1493+2245T>C | |
| XM_017000990.2:c.1493+2245T>C | XP_016856479.1:n.1493+2245T>C | |
| XM_017000991.1:c.1493+2245T>C | XP_016856480.1:n.1493+2245T>C | |
| XR_001737107.1:n.1655+2245T>C | ||
| XR_001737108.1:n.1655+2245T>C | ||
| XR_001737110.1:n.1655+2245T>C | ||
| XR_001737111.1:n.1367+2245T>C | ||
| NM_015569.5:c.1493+2245T>C MANE Select | NP_056384.2:n.1493+2245T>C | |
| NM_001136127.3:c.1493+2245T>C | NP_001129599.1:n.1493+2245T>C | |
| NM_001278252.2:c.1493+2245T>C | NP_001265181.1:n.1493+2245T>C | |
| NM_001350204.2:c.1493+2245T>C | NP_001337133.1:n.1493+2245T>C | |
| NM_001350205.2:c.1493+2245T>C | NP_001337134.1:n.1493+2245T>C | |
| NM_001350206.2:c.1493+2245T>C | NP_001337135.1:n.1493+2245T>C | |
| NR_146559.2:n.1652+2245T>C |