Linked Data
dbSNP Id:
rs1268121
gnomAD v2:
6-126352586-A-G
gnomAD v3:
6-126031440-A-G
gnomAD v4:
6-126031440-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.126031440A>G , CM000668.2:g.126031440A>G | GRCh38 |
| NC_000006.11:g.126352586A>G , CM000668.1:g.126352586A>G | GRCh37 |
| NC_000006.10:g.126394279A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000334379.11:c.1261-7265A>G MANE Select | ENSP00000333934.5:n.1261-7265A>G | |
| ENST00000648977.1:c.*1098-7265A>G | ENSP00000496820.1:n.*1098-7265A>G | |
| ENST00000334379.9:c.1261-7265A>G | ENSP00000333934.5:n.1261-7265A>G | |
| ENST00000368332.7:c.1246-7265A>G | ENSP00000357316.3:n.1246-7265A>G | |
| ENST00000466316.1:c.681-7265A>G | ||
| ENST00000479748.5:c.*676-7265A>G | ENSP00000433724.1:n.*676-7265A>G | |
| NM_001031712.2:c.1261-7265A>G | NP_001026882.2:n.1261-7265A>G | |
| NM_001350580.1:c.1225-7265A>G | NP_001337509.1:n.1225-7265A>G | |
| NM_001350581.1:c.1072-7265A>G | NP_001337510.1:n.1072-7265A>G | |
| NM_001350582.1:c.1072-7265A>G | NP_001337511.1:n.1072-7265A>G | |
| NM_001350583.1:c.1072-7265A>G | NP_001337512.1:n.1072-7265A>G | |
| NM_001350584.1:c.1072-7265A>G | NP_001337513.1:n.1072-7265A>G | |
| NM_001350585.1:c.667-7265A>G | NP_001337514.1:n.667-7265A>G | |
| NM_001350586.1:c.562-7265A>G | NP_001337515.1:n.562-7265A>G | |
| NM_001350587.1:c.562-7265A>G | NP_001337516.1:n.562-7265A>G | |
| NM_001350588.1:c.562-7265A>G | NP_001337517.1:n.562-7265A>G | |
| NM_001350589.1:c.562-7265A>G | NP_001337518.1:n.562-7265A>G | |
| NM_001350590.1:c.562-7265A>G | NP_001337519.1:n.562-7265A>G | |
| NM_001350591.1:c.562-7265A>G | NP_001337520.1:n.562-7265A>G | |
| NM_001350592.1:c.562-7265A>G | NP_001337521.1:n.562-7265A>G | |
| NM_001350593.1:c.562-7265A>G | NP_001337522.1:n.562-7265A>G | |
| NM_001350594.1:c.562-7265A>G | NP_001337523.1:n.562-7265A>G | |
| NM_001350595.1:c.562-7265A>G | NP_001337524.1:n.562-7265A>G | |
| NM_001350596.1:c.562-7265A>G | NP_001337525.1:n.562-7265A>G | |
| NM_001350597.1:c.562-7265A>G | NP_001337526.1:n.562-7265A>G | |
| NR_146795.1:n.1571-7265A>G | ||
| NR_146796.1:n.1495-7265A>G | ||
| NR_146797.1:n.1823-7265A>G | ||
| NR_146798.1:n.1471-7265A>G | ||
| NR_146799.1:n.1382-7265A>G | ||
| NR_146800.1:n.1492-7265A>G | ||
| NR_146801.1:n.1584-7265A>G | ||
| NR_146802.1:n.1726-7265A>G | ||
| NR_146803.1:n.1799-7265A>G | ||
| NR_146804.1:n.1710-7265A>G | ||
| XM_017011168.1:c.667-7265A>G | XP_016866657.1:n.667-7265A>G | |
| XM_024446516.1:c.562-7265A>G | XP_024302284.1:n.562-7265A>G | |
| XR_002956294.1:n.3955-7265A>G | ||
| NM_001031712.3:c.1261-7265A>G MANE Select | NP_001026882.2:n.1261-7265A>G | |
| NR_146803.2:n.1689-7265A>G | ||
| NR_146804.2:n.1600-7265A>G | ||
| NM_001350580.2:c.1225-7265A>G | NP_001337509.1:n.1225-7265A>G | |
| NM_001350581.2:c.1072-7265A>G | NP_001337510.1:n.1072-7265A>G | |
| NM_001350582.2:c.1072-7265A>G | NP_001337511.1:n.1072-7265A>G | |
| NM_001350583.2:c.1072-7265A>G | NP_001337512.1:n.1072-7265A>G | |
| NM_001350584.2:c.1072-7265A>G | NP_001337513.1:n.1072-7265A>G | |
| NM_001350585.2:c.667-7265A>G | NP_001337514.1:n.667-7265A>G | |
| NM_001350586.2:c.562-7265A>G | NP_001337515.1:n.562-7265A>G | |
| NM_001350587.2:c.562-7265A>G | NP_001337516.1:n.562-7265A>G | |
| NM_001350588.2:c.562-7265A>G | NP_001337517.1:n.562-7265A>G | |
| NM_001350589.2:c.562-7265A>G | NP_001337518.1:n.562-7265A>G | |
| NM_001350590.2:c.562-7265A>G | NP_001337519.1:n.562-7265A>G | |
| NM_001350591.2:c.562-7265A>G | NP_001337520.1:n.562-7265A>G | |
| NM_001350592.2:c.562-7265A>G | NP_001337521.1:n.562-7265A>G | |
| NM_001350593.2:c.562-7265A>G | NP_001337522.1:n.562-7265A>G | |
| NM_001350594.2:c.562-7265A>G | NP_001337523.1:n.562-7265A>G | |
| NM_001350595.2:c.562-7265A>G | NP_001337524.1:n.562-7265A>G | |
| NM_001350596.2:c.562-7265A>G | NP_001337525.1:n.562-7265A>G | |
| NM_001350597.2:c.562-7265A>G | NP_001337526.1:n.562-7265A>G | |
| NR_146795.2:n.1461-7265A>G | ||
| NR_146796.2:n.1385-7265A>G | ||
| NR_146797.2:n.1713-7265A>G | ||
| NR_146798.2:n.1361-7265A>G | ||
| NR_146799.2:n.1272-7265A>G | ||
| NR_146800.2:n.1382-7265A>G | ||
| NR_146801.2:n.1474-7265A>G | ||
| NR_146802.2:n.1616-7265A>G |