Linked Data
dbSNP Id:
rs6922269
gnomAD v2:
6-151252985-G-A
gnomAD v3:
6-150931849-G-A
gnomAD v4:
6-150931849-G-A
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.150931849G>A , CM000668.2:g.150931849G>A | GRCh38 |
| NC_000006.11:g.151252985G>A , CM000668.1:g.151252985G>A | GRCh37 |
| NC_000006.10:g.151294678G>A | NCBI36 |
| NG_029185.1:g.71171G>A | |
| NG_029185.2:g.71171G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367321.8:c.1257-4955G>A MANE Select | ENSP00000356290.3:n.1257-4955G>A | |
| ENST00000367321.7:c.1257-4955G>A | ENSP00000356290.3:n.1257-4955G>A | |
| ENST00000441122.5:c.*463-4955G>A | ENSP00000407070.2:n.*463-4955G>A | |
| ENST00000611279.4:c.1260-4955G>A | ENSP00000478253.1:n.1260-4955G>A | |
| ENST00000618312.4:c.1062-4955G>A | ENSP00000479539.1:n.1062-4955G>A | |
| NM_001242767.1:c.1260-4955G>A | NP_001229696.1:n.1260-4955G>A | |
| NM_001242768.1:c.1062-4955G>A | NP_001229697.1:n.1062-4955G>A | |
| NM_015440.4:c.1257-4955G>A | NP_056255.2:n.1257-4955G>A | |
| XM_005266907.3:c.1257-4955G>A | XP_005266964.1:n.1257-4955G>A | |
| XM_005266910.3:c.1260-4955G>A | XP_005266967.1:n.1260-4955G>A | |
| XM_005266911.3:c.1260-4955G>A | XP_005266968.1:n.1260-4955G>A | |
| XM_011535729.1:c.1260-4955G>A | XP_011534031.1:n.1260-4955G>A | |
| XM_011535730.1:c.1062-4955G>A | XP_011534032.1:n.1062-4955G>A | |
| XM_011535731.1:c.1059-4955G>A | XP_011534033.1:n.1059-4955G>A | |
| XM_011535732.1:c.930-4955G>A | XP_011534034.1:n.930-4955G>A | |
| XM_011535733.1:c.930-4955G>A | XP_011534035.1:n.930-4955G>A | |
| XM_011535734.1:c.927-4955G>A | XP_011534036.1:n.927-4955G>A | |
| XM_011535735.1:c.1260-4955G>A | XP_011534037.1:n.1260-4955G>A | |
| XM_011535736.1:c.1260-4955G>A | XP_011534038.1:n.1260-4955G>A | |
| XM_011535737.1:c.1260-4955G>A | XP_011534039.1:n.1260-4955G>A | |
| XM_011535738.1:c.1260-4955G>A | XP_011534040.1:n.1260-4955G>A | |
| NM_001350486.1:c.1059-4955G>A | NP_001337415.1:n.1059-4955G>A | |
| NM_001350487.1:c.927-4955G>A | NP_001337416.1:n.927-4955G>A | |
| NM_001350492.1:c.930-4955G>A | NP_001337421.1:n.930-4955G>A | |
| NM_001350493.1:c.930-4955G>A | NP_001337422.1:n.930-4955G>A | |
| NR_146719.1:n.1401-4955G>A | ||
| NR_146720.1:n.2166-4955G>A | ||
| XM_005266907.5:c.1257-4955G>A | XP_005266964.1:n.1257-4955G>A | |
| XM_005266911.5:c.1260-4955G>A | XP_005266968.1:n.1260-4955G>A | |
| XM_011535729.3:c.1260-4955G>A | XP_011534031.1:n.1260-4955G>A | |
| XM_011535730.2:c.1062-4955G>A | XP_011534032.1:n.1062-4955G>A | |
| XM_011535731.2:c.1059-4955G>A | XP_011534033.1:n.1059-4955G>A | |
| XM_011535732.2:c.930-4955G>A | XP_011534034.1:n.930-4955G>A | |
| XM_011535733.2:c.930-4955G>A | XP_011534035.1:n.930-4955G>A | |
| XM_011535734.2:c.927-4955G>A | XP_011534036.1:n.927-4955G>A | |
| XM_011535737.3:c.1260-4955G>A | XP_011534039.1:n.1260-4955G>A | |
| XM_011535738.3:c.1260-4955G>A | XP_011534040.1:n.1260-4955G>A | |
| XM_017010702.2:c.1260-4955G>A | XP_016866191.1:n.1260-4955G>A | |
| XM_017010703.2:c.1260-4955G>A | XP_016866192.1:n.1260-4955G>A | |
| XM_017010705.1:c.927-4955G>A | XP_016866194.1:n.927-4955G>A | |
| XM_024446395.1:c.1152-4955G>A | XP_024302163.1:n.1152-4955G>A | |
| XM_024446396.1:c.1260-2810G>A | XP_024302164.1:n.1260-2810G>A | |
| XR_001743322.2:n.1399-4955G>A | ||
| XR_002956274.1:n.1399-4955G>A | ||
| NM_001242767.2:c.1260-4955G>A | NP_001229696.1:n.1260-4955G>A | |
| NM_001242768.2:c.1062-4955G>A | NP_001229697.1:n.1062-4955G>A | |
| NM_001350487.2:c.927-4955G>A | NP_001337416.1:n.927-4955G>A | |
| NM_001350492.2:c.930-4955G>A | NP_001337421.1:n.930-4955G>A | |
| NM_015440.5:c.1257-4955G>A MANE Select | NP_056255.2:n.1257-4955G>A | |
| NR_146719.2:n.1378-4955G>A | ||
| NR_146720.2:n.2127-4955G>A |