Linked Data
ClinVar Variation Id:
17120
dbSNP Id:
rs750995470
ExAC:
6:33134289 C / T
gnomAD v2:
6-33134289-C-T
gnomAD v4:
6-33166512-C-T
COSMIC:
COSM3349306
PubMed:
PMID:7833911
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33166512C>T , CM000668.2:g.33166512C>T | GRCh38 |
| NC_000006.11:g.33134289C>T , CM000668.1:g.33134289C>T | GRCh37 |
| NC_000006.10:g.33242267C>T | NCBI36 |
| NG_011589.1:g.30957G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683572.1:n.234+279G>A | ||
| ENST00000341947.7:c.4392+1G>A MANE Select | ENSP00000339915.2:n.4392+1G>A | |
| ENST00000341947.6:c.4392+1G>A | ENSP00000339915.2:n.4392+1G>A | |
| ENST00000361917.5:c.4071+1G>A | ENSP00000355123.1:n.4071+1G>A | |
| ENST00000374708.8:c.4134+1G>A | ENSP00000363840.4:n.4134+1G>A | |
| ENST00000477772.1:n.273-696G>A | ||
| NM_080679.2:c.4071+1G>A | NP_542410.2:n.4071+1G>A | |
| NM_080680.2:c.4392+1G>A | NP_542411.2:n.4392+1G>A | |
| NM_080681.2:c.4134+1G>A | NP_542412.2:n.4134+1G>A | |
| XM_011514298.1:c.3546+1G>A | XP_011512600.1:n.3546+1G>A | |
| XM_011514299.1:c.3678+1G>A | XP_011512601.1:n.3678+1G>A | |
| XM_011514300.1:c.3498+1G>A | XP_011512602.1:n.3498+1G>A | |
| XM_011514301.1:c.3435+1G>A | XP_011512603.1:n.3435+1G>A | |
| XM_011514302.1:c.3279+1G>A | XP_011512604.1:n.3279+1G>A | |
| XM_011514299.2:c.3678+1G>A | XP_011512601.1:n.3678+1G>A | |
| XM_011514300.2:c.3498+1G>A | XP_011512602.1:n.3498+1G>A | |
| XM_011514302.2:c.3279+1G>A | XP_011512604.1:n.3279+1G>A | |
| XM_017010250.1:c.4392+1G>A | XP_016865739.1:n.4392+1G>A | |
| XM_017010251.2:c.3210+1G>A | XP_016865740.1:n.3210+1G>A | |
| NM_080680.3:c.4392+1G>A MANE Select | NP_542411.2:n.4392+1G>A | |
| NM_080681.3:c.4134+1G>A | NP_542412.2:n.4134+1G>A | |
| NM_080679.3:c.4071+1G>A | NP_542410.2:n.4071+1G>A |