Linked Data
ClinVar Variation Id:
29899
ClinVar RCV Id:
RCV000022783
RCV000032370
RCV000677344
RCV002513175
RCV003150932
RCV002509167
RCV002408477
RCV003325404
dbSNP Id:
rs199422294
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1280216C>T , CM000667.2:g.1280216C>T | GRCh38 |
| NC_000005.9:g.1280331C>T , CM000667.1:g.1280331C>T | GRCh37 |
| NC_000005.8:g.1333331C>T | NCBI36 |
| NG_009265.1:g.19832G>A , LRG_343:g.19832G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310581.10:c.1892G>A MANE Select | ENSP00000309572.5:p.Arg631Gln | |
| ENST00000656021.1:c.*1438G>A | ENSP00000499759.1:n.*1438G>A | |
| ENST00000310581.9:c.1892G>A | ENSP00000309572.5:p.Arg631Gln | |
| ENST00000334602.10:c.1892G>A | ENSP00000334346.6:p.Arg631Gln | |
| ENST00000460137.6:c.1892G>A | ENSP00000425003.1:p.Arg631Gln | |
| ENST00000484238.6:n.705G>A | ||
| ENST00000508104.2:c.1892G>A | ENSP00000426042.2:p.Arg631Gln | |
| NM_001193376.1:c.1892G>A | NP_001180305.1:p.Arg631Gln | |
| NM_198253.2:c.1892G>A , LRG_343t1:c.1892G>A | NP_937983.2:p.Arg631Gln | |
| XM_011514104.1:c.362G>A | XP_011512406.1:p.Arg121Gln | |
| XM_011514105.1:c.248G>A | XP_011512407.1:p.Arg83Gln | |
| XM_011514106.1:c.248G>A | XP_011512408.1:p.Arg83Gln | |
| NR_149162.1:n.1950G>A | ||
| NR_149163.1:n.1950G>A | ||
| NM_001193376.2:c.1892G>A | NP_001180305.1:p.Arg631Gln | |
| NM_198253.3:c.1892G>A MANE Select | NP_937983.2:p.Arg631Gln | |
| NR_149162.2:n.1971G>A | ||
| NR_149163.2:n.1971G>A | ||
| NM_001193376.3:c.1892G>A | NP_001180305.1:p.Arg631Gln | |
| NR_149162.3:n.1971G>A | ||
| NR_149163.3:n.1971G>A |