Linked Data
dbSNP Id:
rs114403556
ExAC:
17:7097847 G / A
gnomAD v2:
17-7097847-G-A
gnomAD v3:
17-7194528-G-A
gnomAD v4:
17-7194528-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7194528G>A , CM000679.2:g.7194528G>A | GRCh38 |
| NC_000017.10:g.7097847G>A , CM000679.1:g.7097847G>A | GRCh37 |
| NC_000017.9:g.7038571G>A | NCBI36 |
| NG_008391.2:g.30523C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648103.2:n.1562-33C>T | ||
| ENST00000302955.11:c.1293-33C>T | ENSP00000307471.6:n.1293-33C>T | |
| ENST00000399506.9:c.1302-33C>T MANE Select | ENSP00000382425.2:n.1302-33C>T | |
| ENST00000399510.8:c.1422-33C>T | ENSP00000382428.3:n.1422-33C>T | |
| ENST00000491753.2:c.1431-33C>T | ENSP00000467897.2:n.1431-33C>T | |
| ENST00000648103.1:n.272-33C>T | ||
| ENST00000648172.8:c.1431-33C>T | ENSP00000497806.3:n.1431-33C>T | |
| ENST00000648263.1:c.1122-33C>T | ENSP00000498035.1:n.1122-33C>T | |
| ENST00000648707.1:n.1337-33C>T | ||
| ENST00000648896.1:c.1401-33C>T | ENSP00000497546.1:n.1401-33C>T | |
| ENST00000649186.1:c.1122-33C>T | ENSP00000497879.1:n.1122-33C>T | |
| ENST00000649520.1:c.1122-33C>T | ENSP00000497647.1:n.1122-33C>T | |
| ENST00000649971.1:c.1221-33C>T | ENSP00000497011.1:n.1221-33C>T | |
| ENST00000650120.1:c.1122-33C>T | ENSP00000497553.1:n.1122-33C>T | |
| ENST00000302955.10:c.1293-33C>T | ENSP00000307471.6:n.1293-33C>T | |
| ENST00000399506.6:c.1302-33C>T | ENSP00000382425.2:n.1302-33C>T | |
| ENST00000399510.6:c.1431-33C>T | ENSP00000382428.2:n.1431-33C>T | |
| NM_001128827.1:c.1293-33C>T | NP_001122299.1:n.1293-33C>T | |
| NM_001365.3:c.1431-33C>T | NP_001356.1:n.1431-33C>T | |
| XM_005256489.2:c.1422-33C>T | XP_005256546.1:n.1422-33C>T | |
| XM_005256491.1:c.1392-33C>T | XP_005256548.1:n.1392-33C>T | |
| XM_005256492.1:c.1302-33C>T | XP_005256549.1:n.1302-33C>T | |
| XM_005256493.3:c.1122-33C>T | XP_005256550.1:n.1122-33C>T | |
| XM_005256494.2:c.1122-33C>T | XP_005256551.1:n.1122-33C>T | |
| XM_011523698.1:c.1521-33C>T | XP_011522000.1:n.1521-33C>T | |
| XM_011523699.1:c.1521-33C>T | XP_011522001.1:n.1521-33C>T | |
| XM_011523700.1:c.1314-33C>T | XP_011522002.1:n.1314-33C>T | |
| XM_011523701.1:c.1404-33C>T | XP_011522003.1:n.1404-33C>T | |
| XM_011523702.1:c.1122-33C>T | XP_011522004.1:n.1122-33C>T | |
| XR_243545.2:n.2430-33C>T | ||
| XR_934005.1:n.2520-33C>T | ||
| NM_001128827.2:c.1293-33C>T | NP_001122299.1:n.1293-33C>T | |
| NM_001321074.1:c.1422-33C>T | NP_001308003.1:n.1422-33C>T | |
| NM_001321075.1:c.1302-33C>T | NP_001308004.1:n.1302-33C>T | |
| NM_001321076.1:c.1122-33C>T | NP_001308005.1:n.1122-33C>T | |
| NM_001321077.1:c.1122-33C>T | NP_001308006.1:n.1122-33C>T | |
| NM_001365.4:c.1431-33C>T | NP_001356.1:n.1431-33C>T | |
| NR_135527.1:n.2632-33C>T | ||
| XM_011523699.2:c.1521-33C>T | XP_011522001.1:n.1521-33C>T | |
| XM_017024288.2:c.1236-33C>T | XP_016879777.1:n.1236-33C>T | |
| XM_017024289.2:c.1227-33C>T | XP_016879778.1:n.1227-33C>T | |
| XM_017024290.2:c.1221-33C>T | XP_016879779.1:n.1221-33C>T | |
| XM_024450629.1:c.1287-33C>T | XP_024306397.1:n.1287-33C>T | |
| XR_934005.2:n.2514-33C>T | ||
| NM_001128827.3:c.1293-33C>T | NP_001122299.1:n.1293-33C>T | |
| NM_001321075.3:c.1302-33C>T MANE Select | NP_001308004.1:n.1302-33C>T | |
| NM_001321076.2:c.1122-33C>T | NP_001308005.1:n.1122-33C>T | |
| NM_001321077.2:c.1122-33C>T | NP_001308006.1:n.1122-33C>T | |
| NM_001369566.2:c.1221-33C>T | NP_001356495.1:n.1221-33C>T | |
| NM_001128827.4:c.1293-33C>T | NP_001122299.1:n.1293-33C>T | |
| NM_001321076.3:c.1122-33C>T | NP_001308005.1:n.1122-33C>T | |
| NM_001321077.3:c.1122-33C>T | NP_001308006.1:n.1122-33C>T | |
| NM_001369566.3:c.1221-33C>T | NP_001356495.1:n.1221-33C>T |