Linked Data
dbSNP Id:
rs1161457774
gnomAD v2:
17-8108191-A-G
gnomAD v3:
17-8204873-A-G
gnomAD v4:
17-8204873-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8204873A>G , CM000679.2:g.8204873A>G | GRCh38 |
| NC_000017.10:g.8108191A>G , CM000679.1:g.8108191A>G | GRCh37 |
| NC_000017.9:g.8048916A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585124.6:c.1033T>C MANE Select | ENSP00000463999.1:p.Ter345Arg | |
| ENST00000316199.10:c.1036T>C | ENSP00000313950.6:p.Ter346Arg | |
| ENST00000534871.5:c.910T>C | ENSP00000443869.1:p.Ter304Arg | |
| ENST00000578549.5:c.937T>C | ENSP00000462207.1:p.Ter313Arg | |
| ENST00000584972.5:c.725T>C | ||
| ENST00000585124.5:c.1033T>C | ENSP00000463999.1:p.Ter345Arg | |
| NM_001256834.1:c.910T>C | NP_001243763.1:p.Ter304Arg | |
| NM_001256834.2:c.910T>C | NP_001243763.1:p.Ter304Arg | |
| NM_001284526.1:c.1036T>C | NP_001271455.1:p.Ter346Arg | |
| NM_001313950.1:c.1033T>C | NP_001300879.1:p.Ter345Arg | |
| NM_001313951.1:c.910T>C | NP_001300880.1:p.Ter304Arg | |
| NM_001313952.1:c.913T>C | NP_001300881.1:p.Ter305Arg | |
| NM_001313953.1:c.937T>C | NP_001300882.1:p.Ter313Arg | |
| NM_001313954.1:c.577T>C | NP_001300883.1:p.Ter193Arg | |
| NM_001313955.1:c.529T>C | NP_001300884.1:p.Ter177Arg | |
| NM_004217.3:c.1033T>C | NP_004208.2:p.Ter345Arg | |
| NR_132730.1:n.1013T>C | ||
| NR_132731.1:n.898T>C | ||
| XM_011524070.1:c.937T>C | XP_011522372.1:p.Ter313Arg | |
| XM_011524072.1:c.910T>C | XP_011522374.1:p.Ter304Arg | |
| XR_934118.1:n.1242T>C | ||
| NM_001313953.2:c.937T>C | NP_001300882.1:p.Ter313Arg | |
| XM_011524072.3:c.910T>C | XP_011522374.1:p.Ter304Arg | |
| XM_017025307.2:c.910T>C | XP_016880796.1:p.Ter304Arg | |
| XM_017025308.2:c.814T>C | XP_016880797.1:p.Ter272Arg | |
| XM_017025309.1:c.577T>C | XP_016880798.1:p.Ter193Arg | |
| XM_017025310.1:c.577T>C | XP_016880799.1:p.Ter193Arg | |
| XM_017025311.1:c.577T>C | XP_016880800.1:p.Ter193Arg | |
| NM_004217.4:c.1033T>C MANE Select | NP_004208.2:p.Ter345Arg | |
| NM_001256834.3:c.910T>C | NP_001243763.1:p.Ter304Arg | |
| NM_001284526.2:c.1036T>C | NP_001271455.1:p.Ter346Arg | |
| NM_001313950.2:c.1033T>C | NP_001300879.1:p.Ter345Arg | |
| NM_001313952.2:c.913T>C | NP_001300881.1:p.Ter305Arg | |
| NM_001313953.3:c.937T>C | NP_001300882.1:p.Ter313Arg | |
| NM_001313954.2:c.577T>C | NP_001300883.1:p.Ter193Arg | |
| NM_001313955.2:c.529T>C | NP_001300884.1:p.Ter177Arg | |
| NR_132730.2:n.962T>C |