Linked Data
dbSNP Id:
rs752585650
ExAC:
17:79826754 A / G
gnomAD v2:
17-79826754-A-G
gnomAD v4:
17-81868878-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.81868878A>G , CM000679.2:g.81868878A>G | GRCh38 |
| NC_000017.10:g.79826754A>G , CM000679.1:g.79826754A>G | GRCh37 |
| NC_000017.9:g.77420043A>G | NCBI36 |
| NG_034210.1:g.7529T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269321.12:c.613T>C MANE Select | ENSP00000269321.7:p.Ter205Arg | |
| ENST00000269321.11:c.613T>C | ENSP00000269321.7:p.Ter205Arg | |
| ENST00000400721.8:c.481T>C | ENSP00000383556.4:p.Ter161Arg | |
| ENST00000541078.6:c.613T>C | ENSP00000441348.2:p.Ter205Arg | |
| ENST00000579121.5:c.502+111T>C | ENSP00000462960.1:n.502+111T>C | |
| ENST00000580685.5:c.613T>C | ENSP00000464205.1:p.Ter205Arg | |
| ENST00000581876.5:c.388T>C | ENSP00000461956.1:p.Ter130Arg | |
| ENST00000582984.5:n.815T>C | ||
| ENST00000583868.5:c.501T>C | ENSP00000462209.1:p.Thr167= | |
| ENST00000584461.5:c.502+111T>C | ENSP00000463939.1:n.502+111T>C | |
| NM_001185077.2:c.613T>C | NP_001172006.1:p.Ter205Arg | |
| NM_001185078.2:c.481T>C | NP_001172007.1:p.Ter161Arg | |
| NM_001301240.1:c.502+111T>C | NP_001288169.1:n.502+111T>C | |
| NM_001301241.1:c.502+111T>C | NP_001288170.1:n.502+111T>C | |
| NM_001301242.1:c.501T>C | NP_001288171.1:p.Thr167= | |
| NM_001301243.1:c.748T>C | NP_001288172.1:p.Ter250Arg | |
| NM_004309.5:c.613T>C | NP_004300.1:p.Ter205Arg | |
| NR_125441.1:n.672T>C | ||
| XM_011523574.1:c.748T>C | XP_011521876.1:p.Ter250Arg | |
| NM_004309.6:c.613T>C MANE Select | NP_004300.1:p.Ter205Arg | |
| NM_001185077.3:c.613T>C | NP_001172006.1:p.Ter205Arg | |
| NM_001185078.3:c.481T>C | NP_001172007.1:p.Ter161Arg | |
| NM_001301240.2:c.502+111T>C | NP_001288169.1:n.502+111T>C | |
| NM_001301241.2:c.502+111T>C | NP_001288170.1:n.502+111T>C | |
| NM_001301242.2:c.501T>C | NP_001288171.1:p.Thr167= | |
| NM_001301243.2:c.748T>C | NP_001288172.1:p.Ter250Arg | |
| NR_125441.2:n.603T>C |