Linked Data
ClinVar Variation Id:
226539
ClinVar RCV Id:
RCV000217784
RCV000265543
RCV000320631
RCV000359941
RCV000406560
RCV001722142
RCV002277576
dbSNP Id:
rs368309085
ExAC:
6:33131600 A / C
gnomAD v2:
6-33131600-A-C
gnomAD v3:
6-33163823-A-C
gnomAD v4:
6-33163823-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33163823A>C , CM000668.2:g.33163823A>C | GRCh38 |
| NC_000006.11:g.33131600A>C , CM000668.1:g.33131600A>C | GRCh37 |
| NC_000006.10:g.33239578A>C | NCBI36 |
| NG_011589.1:g.33646T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683572.1:n.877-5T>G | ||
| ENST00000341947.7:c.5071-5T>G MANE Select | ENSP00000339915.2:n.5071-5T>G | |
| ENST00000341947.6:c.5071-5T>G | ENSP00000339915.2:n.5071-5T>G | |
| ENST00000361917.5:c.4750-5T>G | ENSP00000355123.1:n.4750-5T>G | |
| ENST00000374708.8:c.4813-5T>G | ENSP00000363840.4:n.4813-5T>G | |
| ENST00000477772.1:n.861-5T>G | ||
| NM_080679.2:c.4750-5T>G | NP_542410.2:n.4750-5T>G | |
| NM_080680.2:c.5071-5T>G | NP_542411.2:n.5071-5T>G | |
| NM_080681.2:c.4813-5T>G | NP_542412.2:n.4813-5T>G | |
| XM_011514298.1:c.4225-5T>G | XP_011512600.1:n.4225-5T>G | |
| XM_011514299.1:c.4357-5T>G | XP_011512601.1:n.4357-5T>G | |
| XM_011514300.1:c.4177-5T>G | XP_011512602.1:n.4177-5T>G | |
| XM_011514301.1:c.4114-5T>G | XP_011512603.1:n.4114-5T>G | |
| XM_011514302.1:c.3958-5T>G | XP_011512604.1:n.3958-5T>G | |
| XM_011514299.2:c.4357-5T>G | XP_011512601.1:n.4357-5T>G | |
| XM_011514300.2:c.4177-5T>G | XP_011512602.1:n.4177-5T>G | |
| XM_011514302.2:c.3958-5T>G | XP_011512604.1:n.3958-5T>G | |
| XM_017010250.1:c.5071-5T>G | XP_016865739.1:n.5071-5T>G | |
| XM_017010251.2:c.3889-5T>G | XP_016865740.1:n.3889-5T>G | |
| NM_080680.3:c.5071-5T>G MANE Select | NP_542411.2:n.5071-5T>G | |
| NM_080681.3:c.4813-5T>G | NP_542412.2:n.4813-5T>G | |
| NM_080679.3:c.4750-5T>G | NP_542410.2:n.4750-5T>G |