Linked Data
ClinVar Variation Id:
356386
dbSNP Id:
rs537455619
ExAC:
6:33135245 C / T
gnomAD v2:
6-33135245-C-T
gnomAD v3:
6-33167468-C-T
gnomAD v4:
6-33167468-C-T
COSMIC:
COSM4649752
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33167468C>T , CM000668.2:g.33167468C>T | GRCh38 |
| NC_000006.11:g.33135245C>T , CM000668.1:g.33135245C>T | GRCh37 |
| NC_000006.10:g.33243223C>T | NCBI36 |
| NG_011589.1:g.30001G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683572.1:n.47G>A | ||
| ENST00000341947.7:c.4080G>A MANE Select | ENSP00000339915.2:p.Gly1360= | |
| ENST00000341947.6:c.4080G>A | ENSP00000339915.2:p.Gly1360= | |
| ENST00000361917.5:c.3759G>A | ENSP00000355123.1:p.Gly1253= | |
| ENST00000374708.8:c.3822G>A | ENSP00000363840.4:p.Gly1274= | |
| ENST00000477772.1:n.273-1652G>A | ||
| NM_080679.2:c.3759G>A | NP_542410.2:p.Gly1253= | |
| NM_080680.2:c.4080G>A | NP_542411.2:p.Gly1360= | |
| NM_080681.2:c.3822G>A | NP_542412.2:p.Gly1274= | |
| XM_011514298.1:c.3234G>A | XP_011512600.1:p.Gly1078= | |
| XM_011514299.1:c.3366G>A | XP_011512601.1:p.Gly1122= | |
| XM_011514300.1:c.3186G>A | XP_011512602.1:p.Gly1062= | |
| XM_011514301.1:c.3123G>A | XP_011512603.1:p.Gly1041= | |
| XM_011514302.1:c.2967G>A | XP_011512604.1:p.Gly989= | |
| XM_011514299.2:c.3366G>A | XP_011512601.1:p.Gly1122= | |
| XM_011514300.2:c.3186G>A | XP_011512602.1:p.Gly1062= | |
| XM_011514302.2:c.2967G>A | XP_011512604.1:p.Gly989= | |
| XM_017010250.1:c.4080G>A | XP_016865739.1:p.Gly1360= | |
| XM_017010251.2:c.2898G>A | XP_016865740.1:p.Gly966= | |
| NM_080680.3:c.4080G>A MANE Select | NP_542411.2:p.Gly1360= | |
| NM_080681.3:c.3822G>A | NP_542412.2:p.Gly1274= | |
| NM_080679.3:c.3759G>A | NP_542410.2:p.Gly1253= |