Linked Data
ClinVar Variation Id:
178604
ClinVar RCV Id:
RCV000155357
RCV000285869
RCV000316522
RCV000343257
RCV000373381
RCV001521390
RCV002277310
RCV002484938
dbSNP Id:
rs1799912
ExAC:
6:33132693 C / T
gnomAD v2:
6-33132693-C-T
gnomAD v3:
6-33164916-C-T
gnomAD v4:
6-33164916-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33164916C>T , CM000668.2:g.33164916C>T | GRCh38 |
| NC_000006.11:g.33132693C>T , CM000668.1:g.33132693C>T | GRCh37 |
| NC_000006.10:g.33240671C>T | NCBI36 |
| NG_011589.1:g.32553G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683572.1:n.605G>A | ||
| ENST00000341947.7:c.4799G>A MANE Select | ENSP00000339915.2:p.Arg1600Gln | |
| ENST00000341947.6:c.4799G>A | ENSP00000339915.2:p.Arg1600Gln | |
| ENST00000361917.5:c.4478G>A | ENSP00000355123.1:p.Arg1493Gln | |
| ENST00000374708.8:c.4541G>A | ENSP00000363840.4:p.Arg1514Gln | |
| ENST00000477772.1:n.589G>A | ||
| NM_080679.2:c.4478G>A | NP_542410.2:p.Arg1493Gln | |
| NM_080680.2:c.4799G>A | NP_542411.2:p.Arg1600Gln | |
| NM_080681.2:c.4541G>A | NP_542412.2:p.Arg1514Gln | |
| XM_011514298.1:c.3953G>A | XP_011512600.1:p.Arg1318Gln | |
| XM_011514299.1:c.4085G>A | XP_011512601.1:p.Arg1362Gln | |
| XM_011514300.1:c.3905G>A | XP_011512602.1:p.Arg1302Gln | |
| XM_011514301.1:c.3842G>A | XP_011512603.1:p.Arg1281Gln | |
| XM_011514302.1:c.3686G>A | XP_011512604.1:p.Arg1229Gln | |
| XM_011514299.2:c.4085G>A | XP_011512601.1:p.Arg1362Gln | |
| XM_011514300.2:c.3905G>A | XP_011512602.1:p.Arg1302Gln | |
| XM_011514302.2:c.3686G>A | XP_011512604.1:p.Arg1229Gln | |
| XM_017010250.1:c.4799G>A | XP_016865739.1:p.Arg1600Gln | |
| XM_017010251.2:c.3617G>A | XP_016865740.1:p.Arg1206Gln | |
| NM_080680.3:c.4799G>A MANE Select | NP_542411.2:p.Arg1600Gln | |
| NM_080681.3:c.4541G>A | NP_542412.2:p.Arg1514Gln | |
| NM_080679.3:c.4478G>A | NP_542410.2:p.Arg1493Gln |