Linked Data
ClinVar Variation Id:
2045887
ClinVar RCV Id:
RCV002908974
dbSNP Id:
rs763613565
ExAC:
6:33132633 G / A
gnomAD v2:
6-33132633-G-A
gnomAD v3:
6-33164856-G-A
gnomAD v4:
6-33164856-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33164856G>A , CM000668.2:g.33164856G>A | GRCh38 |
| NC_000006.11:g.33132633G>A , CM000668.1:g.33132633G>A | GRCh37 |
| NC_000006.10:g.33240611G>A | NCBI36 |
| NG_011589.1:g.32613C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000683572.1:n.665C>T | ||
| ENST00000341947.7:c.4859C>T MANE Select | ENSP00000339915.2:p.Thr1620Met | |
| ENST00000341947.6:c.4859C>T | ENSP00000339915.2:p.Thr1620Met | |
| ENST00000361917.5:c.4538C>T | ENSP00000355123.1:p.Thr1513Met | |
| ENST00000374708.8:c.4601C>T | ENSP00000363840.4:p.Thr1534Met | |
| ENST00000477772.1:n.649C>T | ||
| NM_080679.2:c.4538C>T | NP_542410.2:p.Thr1513Met | |
| NM_080680.2:c.4859C>T | NP_542411.2:p.Thr1620Met | |
| NM_080681.2:c.4601C>T | NP_542412.2:p.Thr1534Met | |
| XM_011514298.1:c.4013C>T | XP_011512600.1:p.Thr1338Met | |
| XM_011514299.1:c.4145C>T | XP_011512601.1:p.Thr1382Met | |
| XM_011514300.1:c.3965C>T | XP_011512602.1:p.Thr1322Met | |
| XM_011514301.1:c.3902C>T | XP_011512603.1:p.Thr1301Met | |
| XM_011514302.1:c.3746C>T | XP_011512604.1:p.Thr1249Met | |
| XM_011514299.2:c.4145C>T | XP_011512601.1:p.Thr1382Met | |
| XM_011514300.2:c.3965C>T | XP_011512602.1:p.Thr1322Met | |
| XM_011514302.2:c.3746C>T | XP_011512604.1:p.Thr1249Met | |
| XM_017010250.1:c.4859C>T | XP_016865739.1:p.Thr1620Met | |
| XM_017010251.2:c.3677C>T | XP_016865740.1:p.Thr1226Met | |
| NM_080680.3:c.4859C>T MANE Select | NP_542411.2:p.Thr1620Met | |
| NM_080681.3:c.4601C>T | NP_542412.2:p.Thr1534Met | |
| NM_080679.3:c.4538C>T | NP_542410.2:p.Thr1513Met |