Linked Data
dbSNP Id:
rs907327258
gnomAD v2:
22-40760625-A-G
gnomAD v3:
22-40364621-A-G
gnomAD v4:
22-40364621-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.40364621A>G , CM000684.2:g.40364621A>G | GRCh38 |
| NC_000022.10:g.40760625A>G , CM000684.1:g.40760625A>G | GRCh37 |
| NC_000022.9:g.39090571A>G | NCBI36 |
| NG_007993.1:g.23122A>G | |
| NG_007993.2:g.23122A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480775.3:c.*585+256A>G | ENSP00000485462.2:n.*585+256A>G | |
| ENST00000623287.4:c.*616+256A>G | ENSP00000485437.1:n.*616+256A>G | |
| ENST00000623632.4:c.882+256A>G | ENSP00000485288.2:n.882+256A>G | |
| ENST00000625194.4:c.1233+256A>G | ENSP00000485289.2:n.1233+256A>G | |
| ENST00000636433.1:n.1213+256A>G | ||
| ENST00000636714.1:c.1191+256A>G | ENSP00000490946.1:n.1191+256A>G | |
| ENST00000637666.2:c.1191+256A>G | ENSP00000489696.2:n.1191+256A>G | |
| ENST00000637669.1:c.1191+256A>G | ENSP00000489728.1:n.1191+256A>G | |
| ENST00000639722.1:c.*887+256A>G | ENSP00000492828.1:n.*887+256A>G | |
| ENST00000674592.1:n.2705+256A>G | ||
| ENST00000675622.1:n.4258+256A>G | ||
| ENST00000679609.1:c.*801+256A>G | ENSP00000506592.1:n.*801+256A>G | |
| ENST00000679656.1:n.1876+256A>G | ||
| ENST00000679723.1:c.1146+256A>G | ENSP00000505155.1:n.1146+256A>G | |
| ENST00000679845.1:n.1499+256A>G | ||
| ENST00000679904.1:n.1587+256A>G | ||
| ENST00000680378.1:c.1278+256A>G | ENSP00000505556.1:n.1278+256A>G | |
| ENST00000680444.1:c.*554+256A>G | ENSP00000505298.1:n.*554+256A>G | |
| ENST00000680978.1:c.1191+256A>G | ENSP00000505244.1:n.1191+256A>G | |
| ENST00000681003.1:n.654+256A>G | ||
| ENST00000681159.1:n.2595+256A>G | ||
| ENST00000216194.11:c.1233+256A>G | ENSP00000216194.8:n.1233+256A>G | |
| ENST00000342312.9:c.1191+256A>G | ENSP00000341429.6:n.1191+256A>G | |
| ENST00000623063.3:c.1191+256A>G MANE Select | ENSP00000485525.1:n.1191+256A>G | |
| ENST00000623387.1:n.64A>G | ||
| ENST00000625194.3:c.820+256A>G | ||
| NM_000026.2:c.1191+256A>G | NP_000017.1:n.1191+256A>G | |
| NM_001123378.1:c.1191+256A>G | NP_001116850.1:n.1191+256A>G | |
| XM_011529976.1:c.1191+256A>G | XP_011528278.1:n.1191+256A>G | |
| XM_011529977.1:c.1191+256A>G | XP_011528279.1:n.1191+256A>G | |
| XM_011529978.1:c.1191+256A>G | XP_011528280.1:n.1191+256A>G | |
| XM_011529979.1:c.1191+256A>G | XP_011528281.1:n.1191+256A>G | |
| XM_011529980.1:c.1191+256A>G | XP_011528282.1:n.1191+256A>G | |
| XM_011529981.1:c.726+256A>G | XP_011528283.1:n.726+256A>G | |
| XM_011529982.1:c.360+256A>G | XP_011528284.1:n.360+256A>G | |
| XR_937824.1:n.1281+256A>G | ||
| XR_937825.1:n.1281+256A>G | ||
| NM_000026.3:c.1191+256A>G | NP_000017.1:n.1191+256A>G | |
| NM_001123378.2:c.1191+256A>G | NP_001116850.1:n.1191+256A>G | |
| NM_001317923.1:c.999+256A>G | NP_001304852.1:n.999+256A>G | |
| NM_001363840.1:c.1191+256A>G | NP_001350769.1:n.1191+256A>G | |
| NR_134256.1:n.1281+256A>G | ||
| XM_011529977.3:c.1191+256A>G | XP_011528279.1:n.1191+256A>G | |
| XM_011529980.3:c.1191+256A>G | XP_011528282.1:n.1191+256A>G | |
| XM_017028636.1:c.1146+256A>G | XP_016884125.1:n.1146+256A>G | |
| XM_017028637.1:c.1146+256A>G | XP_016884126.1:n.1146+256A>G | |
| XM_017028638.1:c.726+256A>G | XP_016884127.1:n.726+256A>G | |
| XM_017028639.2:c.726+256A>G | XP_016884128.1:n.726+256A>G | |
| XM_017028640.1:c.360+256A>G | XP_016884129.1:n.360+256A>G | |
| XM_024452166.1:c.1146+256A>G | XP_024307934.1:n.1146+256A>G | |
| XR_001755176.2:n.1433+256A>G | ||
| XR_002958670.1:n.1218+256A>G | ||
| XR_937825.3:n.1279+256A>G | ||
| NM_000026.4:c.1191+256A>G MANE Select | NP_000017.1:n.1191+256A>G | |
| NM_001363840.2:c.1191+256A>G | NP_001350769.1:n.1191+256A>G | |
| NM_001123378.3:c.1191+256A>G | NP_001116850.1:n.1191+256A>G | |
| NM_001317923.2:c.999+256A>G | NP_001304852.1:n.999+256A>G | |
| NM_001363840.3:c.1191+256A>G | NP_001350769.1:n.1191+256A>G | |
| NR_134256.2:n.1281+256A>G |