Linked Data
dbSNP Id:
rs752158447
ExAC:
12:22005304 A / G
gnomAD v2:
12-22005304-A-G
gnomAD v4:
12-21852370-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21852370A>G , CM000674.2:g.21852370A>G | GRCh38 |
| NC_000012.11:g.22005304A>G , CM000674.1:g.22005304A>G | GRCh37 |
| NC_000012.10:g.21896571A>G | NCBI36 |
| NG_012819.1:g.89325T>C , LRG_377:g.89325T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261201.10:c.2641T>C | ENSP00000261201.4:p.Trp881Arg | |
| ENST00000682068.1:c.2641T>C | ENSP00000507226.1:p.Trp881Arg | |
| ENST00000682426.1:n.218T>C | ||
| ENST00000682879.1:c.*1739T>C | ENSP00000508210.1:n.*1739T>C | |
| ENST00000683105.1:c.2641T>C | ENSP00000506801.1:p.Trp881Arg | |
| ENST00000683676.1:c.2641T>C | ENSP00000508167.1:p.Trp881Arg | |
| ENST00000683811.1:n.2142T>C | ||
| ENST00000684084.1:c.2590T>C | ENSP00000507859.1:p.Trp864Arg | |
| ENST00000261200.9:c.2641T>C MANE Select | ENSP00000261200.4:p.Trp881Arg | |
| ENST00000261201.9:c.2641T>C | ENSP00000261201.4:p.Trp881Arg | |
| ENST00000261200.8:c.2641T>C | ENSP00000261200.4:p.Trp881Arg | |
| ENST00000261201.8:c.2641T>C | ENSP00000261201.4:p.Trp881Arg | |
| ENST00000544039.5:c.1522T>C | ENSP00000440521.1:p.Trp508Arg | |
| NM_005691.3:c.2641T>C | NP_005682.2:p.Trp881Arg | |
| NM_020297.3:c.2641T>C | NP_064693.2:p.Trp881Arg | |
| XM_005253284.2:c.2641T>C | XP_005253341.1:p.Trp881Arg | |
| XM_005253286.2:c.2641T>C | XP_005253343.1:p.Trp881Arg | |
| XM_005253287.3:c.2641T>C | XP_005253344.1:p.Trp881Arg | |
| XM_005253288.2:c.2641T>C | XP_005253345.1:p.Trp881Arg | |
| XM_005253289.2:c.2602T>C | XP_005253346.1:p.Trp868Arg | |
| XM_005253290.2:c.2500T>C | XP_005253347.1:p.Trp834Arg | |
| XM_006719025.2:c.2602T>C | XP_006719088.1:p.Trp868Arg | |
| XM_011520545.1:c.2641T>C | XP_011518847.1:p.Trp881Arg | |
| XM_005253284.4:c.2641T>C | XP_005253341.1:p.Trp881Arg | |
| XM_005253286.4:c.2641T>C | XP_005253343.1:p.Trp881Arg | |
| XM_005253287.5:c.2641T>C | XP_005253344.1:p.Trp881Arg | |
| XM_005253288.4:c.2641T>C | XP_005253345.1:p.Trp881Arg | |
| XM_005253289.4:c.2602T>C | XP_005253346.1:p.Trp868Arg | |
| XM_005253290.4:c.2500T>C | XP_005253347.1:p.Trp834Arg | |
| XM_006719025.4:c.2602T>C | XP_006719088.1:p.Trp868Arg | |
| XM_011520545.3:c.2641T>C | XP_011518847.1:p.Trp881Arg | |
| NM_001377273.1:c.2641T>C | NP_001364202.1:p.Trp881Arg | |
| NM_001377274.1:c.1774T>C | NP_001364203.1:p.Trp592Arg | |
| NM_005691.4:c.2641T>C | NP_005682.2:p.Trp881Arg | |
| NM_020297.4:c.2641T>C MANE Select | NP_064693.2:p.Trp881Arg |