Linked Data
dbSNP Id:
rs2056626
gnomAD v2:
1-167420425-T-G
gnomAD v3:
1-167451188-T-G
gnomAD v4:
1-167451188-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.167451188T>G , CM000663.2:g.167451188T>G | GRCh38 |
| NC_000001.10:g.167420425T>G , CM000663.1:g.167420425T>G | GRCh37 |
| NC_000001.9:g.165687049T>G | NCBI36 |
| NG_007384.1:g.72422A>C , LRG_36:g.72422A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000392122.4:c.59-10421A>C | ENSP00000375969.3:n.59-10421A>C | |
| ENST00000479979.2:n.132-10421A>C | ||
| ENST00000483825.6:n.123-10421A>C | ||
| ENST00000700105.1:c.59-10421A>C | ENSP00000514800.1:n.59-10421A>C | |
| ENST00000700106.1:c.-63-2701A>C | ENSP00000514802.1:n.-63-2701A>C | |
| ENST00000700107.1:c.-63-2701A>C | ENSP00000514803.1:n.-63-2701A>C | |
| ENST00000700108.1:c.-536-6737A>C | ENSP00000514804.1:n.-536-6737A>C | |
| ENST00000700109.1:c.-536-6737A>C | ENSP00000514805.1:n.-536-6737A>C | |
| ENST00000700111.1:n.123-10421A>C | ||
| ENST00000700113.1:c.*340-10421A>C | ENSP00000514838.1:n.*340-10421A>C | |
| ENST00000700134.1:c.59-10421A>C | ENSP00000514822.1:n.59-10421A>C | |
| ENST00000700138.1:n.84+4989A>C | ||
| ENST00000700139.1:n.184-10421A>C | ||
| ENST00000700140.1:n.144-10421A>C | ||
| ENST00000700141.1:n.144-10421A>C | ||
| ENST00000700142.1:c.59-10421A>C | ENSP00000514823.1:n.59-10421A>C | |
| ENST00000700143.1:n.22+4292A>C | ||
| ENST00000700158.1:c.-228+4292A>C | ENSP00000514830.1:n.-228+4292A>C | |
| ENST00000700159.1:c.59-10421A>C | ENSP00000514831.1:n.59-10421A>C | |
| ENST00000700160.1:c.-227-10421A>C | ENSP00000514832.1:n.-227-10421A>C | |
| ENST00000700165.1:c.59-10421A>C | ENSP00000514836.1:n.59-10421A>C | |
| ENST00000700166.1:n.54+1898A>C | ||
| ENST00000700167.1:c.59-10421A>C | ENSP00000514837.1:n.59-10421A>C | |
| ENST00000700169.1:n.62+4292A>C | ||
| ENST00000362089.10:c.59-10421A>C MANE Select | ENSP00000354782.5:n.59-10421A>C | |
| ENST00000362089.9:c.59-10421A>C | ENSP00000354782.5:n.59-10421A>C | |
| ENST00000392122.3:c.59-10421A>C | ENSP00000375969.3:n.59-10421A>C | |
| ENST00000479979.1:n.204-10421A>C | ||
| ENST00000483825.5:n.123-10421A>C | ||
| NM_000734.3:c.59-10421A>C | NP_000725.1:n.59-10421A>C | |
| NM_198053.2:c.59-10421A>C , LRG_36t1:c.59-10421A>C | NP_932170.1:n.59-10421A>C | |
| XM_011510144.1:c.-63-2701A>C | XP_011508446.1:n.-63-2701A>C | |
| XM_011510145.1:c.-63-2701A>C | XP_011508447.1:n.-63-2701A>C | |
| XM_011510144.2:c.-63-2701A>C | XP_011508446.1:n.-63-2701A>C | |
| XM_017002800.1:c.152-10421A>C | XP_016858289.1:n.152-10421A>C | |
| XM_017002801.1:c.152-10421A>C | XP_016858290.1:n.152-10421A>C | |
| NM_000734.4:c.59-10421A>C | NP_000725.1:n.59-10421A>C | |
| NM_001378515.1:c.152-10421A>C | NP_001365444.1:n.152-10421A>C | |
| NM_001378516.1:c.152-10421A>C | NP_001365445.1:n.152-10421A>C | |
| NM_198053.3:c.59-10421A>C MANE Select | NP_932170.1:n.59-10421A>C |