Linked Data
ClinVar Variation Id:
17127
dbSNP Id:
rs121912950
gnomAD v4:
6-33167305-G-A
PubMed:
PMID:15372529
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33167305G>A , CM000668.2:g.33167305G>A | GRCh38 |
| NC_000006.11:g.33135082G>A , CM000668.1:g.33135082G>A | GRCh37 |
| NC_000006.10:g.33243060G>A | NCBI36 |
| NG_011589.1:g.30164C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683572.1:n.102C>T | ||
| ENST00000341947.7:c.4135C>T MANE Select | ENSP00000339915.2:p.Arg1379Ter | |
| ENST00000341947.6:c.4135C>T | ENSP00000339915.2:p.Arg1379Ter | |
| ENST00000361917.5:c.3814C>T | ENSP00000355123.1:p.Arg1272Ter | |
| ENST00000374708.8:c.3877C>T | ENSP00000363840.4:p.Arg1293Ter | |
| ENST00000477772.1:n.273-1489C>T | ||
| NM_080679.2:c.3814C>T | NP_542410.2:p.Arg1272Ter | |
| NM_080680.2:c.4135C>T | NP_542411.2:p.Arg1379Ter | |
| NM_080681.2:c.3877C>T | NP_542412.2:p.Arg1293Ter | |
| XM_011514298.1:c.3289C>T | XP_011512600.1:p.Arg1097Ter | |
| XM_011514299.1:c.3421C>T | XP_011512601.1:p.Arg1141Ter | |
| XM_011514300.1:c.3241C>T | XP_011512602.1:p.Arg1081Ter | |
| XM_011514301.1:c.3178C>T | XP_011512603.1:p.Arg1060Ter | |
| XM_011514302.1:c.3022C>T | XP_011512604.1:p.Arg1008Ter | |
| XM_011514299.2:c.3421C>T | XP_011512601.1:p.Arg1141Ter | |
| XM_011514300.2:c.3241C>T | XP_011512602.1:p.Arg1081Ter | |
| XM_011514302.2:c.3022C>T | XP_011512604.1:p.Arg1008Ter | |
| XM_017010250.1:c.4135C>T | XP_016865739.1:p.Arg1379Ter | |
| XM_017010251.2:c.2953C>T | XP_016865740.1:p.Arg985Ter | |
| NM_080680.3:c.4135C>T MANE Select | NP_542411.2:p.Arg1379Ter | |
| NM_080681.3:c.3877C>T | NP_542412.2:p.Arg1293Ter | |
| NM_080679.3:c.3814C>T | NP_542410.2:p.Arg1272Ter |