Linked Data
dbSNP Id:
rs372881496
gnomAD v3:
6-33174645-C-T
gnomAD v4:
6-33174645-C-T
MyVariant Identifiers:
chr6:g.33174645C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33174645C>T , CM000668.2:g.33174645C>T | GRCh38 |
| NC_000006.11:g.33142422C>T , CM000668.1:g.33142422C>T | GRCh37 |
| NC_000006.10:g.33250400C>T | NCBI36 |
| NG_011589.1:g.22824G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361917.6:c.950-65G>A | ||
| ENST00000341947.7:c.2377-65G>A MANE Select | ENSP00000339915.2:n.2377-65G>A | |
| ENST00000341947.6:c.2377-65G>A | ENSP00000339915.2:n.2377-65G>A | |
| ENST00000361917.5:c.2056-65G>A | ENSP00000355123.1:n.2056-65G>A | |
| ENST00000374708.8:c.2119-65G>A | ENSP00000363840.4:n.2119-65G>A | |
| ENST00000477772.1:n.272+2364G>A | ||
| NM_080679.2:c.2056-65G>A | NP_542410.2:n.2056-65G>A | |
| NM_080680.2:c.2377-65G>A | NP_542411.2:n.2377-65G>A | |
| NM_080681.2:c.2119-65G>A | NP_542412.2:n.2119-65G>A | |
| XM_011514298.1:c.1531-65G>A | XP_011512600.1:n.1531-65G>A | |
| XM_011514299.1:c.1663-65G>A | XP_011512601.1:n.1663-65G>A | |
| XM_011514300.1:c.1483-65G>A | XP_011512602.1:n.1483-65G>A | |
| XM_011514301.1:c.1420-65G>A | XP_011512603.1:n.1420-65G>A | |
| XM_011514302.1:c.1264-65G>A | XP_011512604.1:n.1264-65G>A | |
| XM_011514299.2:c.1663-65G>A | XP_011512601.1:n.1663-65G>A | |
| XM_011514300.2:c.1483-65G>A | XP_011512602.1:n.1483-65G>A | |
| XM_011514302.2:c.1264-65G>A | XP_011512604.1:n.1264-65G>A | |
| XM_017010250.1:c.2377-65G>A | XP_016865739.1:n.2377-65G>A | |
| XM_017010251.2:c.1195-65G>A | XP_016865740.1:n.1195-65G>A | |
| NM_080680.3:c.2377-65G>A MANE Select | NP_542411.2:n.2377-65G>A | |
| NM_080681.3:c.2119-65G>A | NP_542412.2:n.2119-65G>A | |
| NM_080679.3:c.2056-65G>A | NP_542410.2:n.2056-65G>A |