gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.7227808 (SAS)
Genomes Max Group AF
0.7224528 (SAS)
Exomes Max Group AF
0.61790947 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.124785146G>C , CM000674.2:g.124785146G>C | GRCh38 |
| NC_000012.11:g.125269692G>C , CM000674.1:g.125269692G>C | GRCh37 |
| NC_000012.10:g.123835645G>C | NCBI36 |
| NG_028199.1:g.83828C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261693.11:c.1401+1211C>G MANE Select | ENSP00000261693.6:n.1401+1211C>G | |
| ENST00000679605.1:c.*327+1211C>G | ENSP00000505370.1:n.*327+1211C>G | |
| ENST00000680556.1:c.1203+1211C>G | ENSP00000505757.1:n.1203+1211C>G | |
| ENST00000680596.1:c.1377+1211C>G | ENSP00000505605.1:n.1377+1211C>G | |
| ENST00000680926.1:c.*349+1211C>G | ENSP00000505571.1:n.*349+1211C>G | |
| ENST00000680982.1:c.*1384+1211C>G | ENSP00000506281.1:n.*1384+1211C>G | |
| ENST00000681117.1:c.*520+1211C>G | ENSP00000506693.1:n.*520+1211C>G | |
| ENST00000681499.1:n.1274+1211C>G | ||
| ENST00000681555.1:n.1091+1211C>G | ||
| ENST00000681686.1:c.*407+1211C>G | ENSP00000505406.1:n.*407+1211C>G | |
| ENST00000681788.1:n.2050+1211C>G | ||
| ENST00000261693.10:c.1401+1211C>G | ENSP00000261693.6:n.1401+1211C>G | |
| ENST00000339570.9:c.1401+1211C>G | ENSP00000343795.4:n.1401+1211C>G | |
| ENST00000415380.6:c.1651+961C>G | ENSP00000414979.2:n.1651+961C>G | |
| ENST00000535005.5:n.1716+1211C>G | ||
| ENST00000538291.5:n.2755C>G | ||
| ENST00000545305.1:n.137+1211C>G | ||
| ENST00000546215.5:c.1317+1295C>G | ENSP00000442862.1:n.1317+1295C>G | |
| NM_001082959.1:c.1401+1211C>G | NP_001076428.1:n.1401+1211C>G | |
| NM_005505.4:c.1401+1211C>G | NP_005496.4:n.1401+1211C>G | |
| NM_005505.5:c.1401+1211C>G MANE Select | NP_005496.4:n.1401+1211C>G | |
| NM_001082959.2:c.1401+1211C>G | NP_001076428.1:n.1401+1211C>G | |
| NM_001367981.1:c.1651+961C>G | NP_001354910.1:n.1651+961C>G | |
| NM_001367983.1:c.1407+1211C>G | NP_001354912.1:n.1407+1211C>G | |
| NM_001367984.1:c.1401+1211C>G | NP_001354913.1:n.1401+1211C>G | |
| NM_001367985.1:c.1377+1211C>G | NP_001354914.1:n.1377+1211C>G | |
| NM_001367986.1:c.1317+1295C>G | NP_001354915.1:n.1317+1295C>G | |
| NM_001367987.1:c.1203+1211C>G | NP_001354916.1:n.1203+1211C>G | |
| NM_001367988.1:c.999+1211C>G | NP_001354917.1:n.999+1211C>G | |
| NM_001367989.1:c.1401+1211C>G | NP_001354918.1:n.1401+1211C>G | |
| NR_160416.1:n.1549+1207C>G | ||
| NR_160417.1:n.1545+1211C>G | ||
| NR_160418.1:n.1236+1211C>G | ||
| NR_160419.1:n.1471+1211C>G | ||
| NR_160420.1:n.1429+1211C>G | ||
| NR_160421.1:n.1352+1211C>G | ||
| NR_160422.1:n.1429+1211C>G | ||
| NR_160423.1:n.1426+1211C>G | ||
| NR_160424.1:n.1540+1211C>G |