Linked Data
ClinVar Variation Id:
471839
dbSNP Id:
rs144821759
ExAC:
5:1280284 T / G
gnomAD v2:
5-1280284-T-G
gnomAD v3:
5-1280169-T-G
gnomAD v4:
5-1280169-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1280169T>G , CM000667.2:g.1280169T>G | GRCh38 |
| NC_000005.9:g.1280284T>G , CM000667.1:g.1280284T>G | GRCh37 |
| NC_000005.8:g.1333284T>G | NCBI36 |
| NG_009265.1:g.19879A>C , LRG_343:g.19879A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310581.10:c.1939A>C MANE Select | ENSP00000309572.5:p.Arg647= | |
| ENST00000656021.1:c.*1485A>C | ENSP00000499759.1:n.*1485A>C | |
| ENST00000310581.9:c.1939A>C | ENSP00000309572.5:p.Arg647= | |
| ENST00000334602.10:c.1939A>C | ENSP00000334346.6:p.Arg647= | |
| ENST00000460137.6:c.1939A>C | ENSP00000425003.1:p.Arg647= | |
| ENST00000484238.6:n.752A>C | ||
| ENST00000508104.2:c.1939A>C | ENSP00000426042.2:p.Arg647= | |
| NM_001193376.1:c.1939A>C | NP_001180305.1:p.Arg647= | |
| NM_198253.2:c.1939A>C , LRG_343t1:c.1939A>C | NP_937983.2:p.Arg647= | |
| XM_011514104.1:c.409A>C | XP_011512406.1:p.Arg137= | |
| XM_011514105.1:c.295A>C | XP_011512407.1:p.Arg99= | |
| XM_011514106.1:c.295A>C | XP_011512408.1:p.Arg99= | |
| NR_149162.1:n.1997A>C | ||
| NR_149163.1:n.1997A>C | ||
| NM_001193376.2:c.1939A>C | NP_001180305.1:p.Arg647= | |
| NM_198253.3:c.1939A>C MANE Select | NP_937983.2:p.Arg647= | |
| NR_149162.2:n.2018A>C | ||
| NR_149163.2:n.2018A>C | ||
| NM_001193376.3:c.1939A>C | NP_001180305.1:p.Arg647= | |
| NR_149162.3:n.2018A>C | ||
| NR_149163.3:n.2018A>C |