Linked Data
ClinVar Variation Id:
356405
dbSNP Id:
rs549588854
ExAC:
6:33146070 C / T
gnomAD v2:
6-33146070-C-T
gnomAD v3:
6-33178293-C-T
gnomAD v4:
6-33178293-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33178293C>T , CM000668.2:g.33178293C>T | GRCh38 |
| NC_000006.11:g.33146070C>T , CM000668.1:g.33146070C>T | GRCh37 |
| NC_000006.10:g.33254048C>T | NCBI36 |
| NG_011589.1:g.19176G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361917.6:c.445+15G>A | ||
| ENST00000341947.7:c.1818+15G>A MANE Select | ENSP00000339915.2:n.1818+15G>A | |
| ENST00000341947.6:c.1818+15G>A | ENSP00000339915.2:n.1818+15G>A | |
| ENST00000361917.5:c.1497+15G>A | ENSP00000355123.1:n.1497+15G>A | |
| ENST00000374708.8:c.1560+15G>A | ENSP00000363840.4:n.1560+15G>A | |
| ENST00000457788.5:c.1818+15G>A | ENSP00000405520.1:n.1818+15G>A | |
| NM_080679.2:c.1497+15G>A | NP_542410.2:n.1497+15G>A | |
| NM_080680.2:c.1818+15G>A | NP_542411.2:n.1818+15G>A | |
| NM_080681.2:c.1560+15G>A | NP_542412.2:n.1560+15G>A | |
| XM_011514298.1:c.972+15G>A | XP_011512600.1:n.972+15G>A | |
| XM_011514299.1:c.1104+15G>A | XP_011512601.1:n.1104+15G>A | |
| XM_011514300.1:c.924+15G>A | XP_011512602.1:n.924+15G>A | |
| XM_011514301.1:c.861+15G>A | XP_011512603.1:n.861+15G>A | |
| XM_011514302.1:c.705+15G>A | XP_011512604.1:n.705+15G>A | |
| XM_011514299.2:c.1104+15G>A | XP_011512601.1:n.1104+15G>A | |
| XM_011514300.2:c.924+15G>A | XP_011512602.1:n.924+15G>A | |
| XM_011514302.2:c.705+15G>A | XP_011512604.1:n.705+15G>A | |
| XM_017010250.1:c.1818+15G>A | XP_016865739.1:n.1818+15G>A | |
| XM_017010251.2:c.636+15G>A | XP_016865740.1:n.636+15G>A | |
| NM_080680.3:c.1818+15G>A MANE Select | NP_542411.2:n.1818+15G>A | |
| NM_080681.3:c.1560+15G>A | NP_542412.2:n.1560+15G>A | |
| NM_080679.3:c.1497+15G>A | NP_542410.2:n.1497+15G>A |