dbSNP:
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00010202 (SAS)
Exomes Max Group AF
0.0001087 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177402460C>G , CM000667.2:g.177402460C>G | GRCh38 |
| NC_000005.9:g.176829461C>G , CM000667.1:g.176829461C>G | GRCh37 |
| NC_000005.8:g.176762067C>G | NCBI36 |
| NG_007568.1:g.12117G>C , LRG_145:g.12117G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696192.1:c.*1347-1G>C (F12) | ENSP00000512476.1:n.*1347-1G>C | |
| ENST00000696193.1:c.*2068-1G>C (F12) | ENSP00000512477.1:n.*2068-1G>C | |
| ENST00000696194.1:c.*1271-1G>C (F12) | ENSP00000512478.1:n.*1271-1G>C | |
| ENST00000696195.1:n.4509G>C (F12) | ||
| ENST00000696200.1:n.2025-1G>C (F12) | ||
| ENST00000696201.1:c.1570-1G>C (F12) | ENSP00000512482.1:n.1570-1G>C | |
| ENST00000253496.4:c.1681-1G>C (F12) MANE Select | ENSP00000253496.3:n.1681-1G>C | |
| ENST00000253496.3:c.1681-1G>C (F12) | ENSP00000253496.3:n.1681-1G>C | |
| ENST00000502854.5:n.1181-1G>C (F12) | ||
| ENST00000504406.5:n.647-1G>C (F12) | ||
| ENST00000510358.5:n.1286-1G>C (F12) | ||
| NM_000505.3:c.1681-1G>C , LRG_145t1:c.1681-1G>C (F12) | NP_000496.2:n.1681-1G>C | |
| XM_011534461.1:c.1681-1G>C (F12) | XP_011532763.1:n.1681-1G>C | |
| XM_011534462.1:c.1345-1G>C (F12) | XP_011532764.1:n.1345-1G>C | |
| XM_011534462.2:c.1345-1G>C (F12) | XP_011532764.1:n.1345-1G>C | |
| XM_017009773.2:c.1416+5386C>G (SLC34A1) | XP_016865262.1:n.1416+5386C>G | |
| NM_000505.4:c.1681-1G>C (F12) MANE Select | NP_000496.2:n.1681-1G>C |