Linked Data
ClinVar Variation Id:
356374
dbSNP Id:
rs548143581
gnomAD v3:
6-33162972-C-A
gnomAD v4:
6-33162972-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33162972C>A , CM000668.2:g.33162972C>A | GRCh38 |
| NC_000006.11:g.33130749C>A , CM000668.1:g.33130749C>A | GRCh37 |
| NC_000006.10:g.33238727C>A | NCBI36 |
| NG_011589.1:g.34497G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341947.7:c.*706G>T MANE Select | ENSP00000339915.2:n.*706G>T | |
| ENST00000341947.6:c.*706G>T | ENSP00000339915.2:n.*706G>T | |
| ENST00000361917.5:c.*706G>T | ENSP00000355123.1:n.*706G>T | |
| ENST00000374708.8:c.*706G>T | ENSP00000363840.4:n.*706G>T | |
| ENST00000477772.1:n.1707G>T | ||
| NM_080679.2:c.*706G>T | NP_542410.2:n.*706G>T | |
| NM_080680.2:c.*706G>T | NP_542411.2:n.*706G>T | |
| NM_080681.2:c.*706G>T | NP_542412.2:n.*706G>T | |
| XM_011514298.1:c.*706G>T | XP_011512600.1:n.*706G>T | |
| XM_011514299.1:c.*706G>T | XP_011512601.1:n.*706G>T | |
| XM_011514300.1:c.*706G>T | XP_011512602.1:n.*706G>T | |
| XM_011514301.1:c.*706G>T | XP_011512603.1:n.*706G>T | |
| XM_011514302.1:c.*706G>T | XP_011512604.1:n.*706G>T | |
| XM_011514299.2:c.*706G>T | XP_011512601.1:n.*706G>T | |
| XM_011514300.2:c.*706G>T | XP_011512602.1:n.*706G>T | |
| XM_011514302.2:c.*706G>T | XP_011512604.1:n.*706G>T | |
| XM_017010250.1:c.*706G>T | XP_016865739.1:n.*706G>T | |
| XM_017010251.2:c.*706G>T | XP_016865740.1:n.*706G>T | |
| NM_080680.3:c.*706G>T MANE Select | NP_542411.2:n.*706G>T | |
| NM_080681.3:c.*706G>T | NP_542412.2:n.*706G>T | |
| NM_080679.3:c.*706G>T | NP_542410.2:n.*706G>T |