Linked Data
ClinVar Variation Id:
2146227
ClinVar RCV Id:
RCV003074456
dbSNP Id:
rs1301815059
gnomAD v2:
6-33132651-G-A
gnomAD v3:
6-33164874-G-A
gnomAD v4:
6-33164874-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33164874G>A , CM000668.2:g.33164874G>A | GRCh38 |
| NC_000006.11:g.33132651G>A , CM000668.1:g.33132651G>A | GRCh37 |
| NC_000006.10:g.33240629G>A | NCBI36 |
| NG_011589.1:g.32595C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683572.1:n.647C>T | ||
| ENST00000341947.7:c.4841C>T MANE Select | ENSP00000339915.2:p.Thr1614Met | |
| ENST00000341947.6:c.4841C>T | ENSP00000339915.2:p.Thr1614Met | |
| ENST00000361917.5:c.4520C>T | ENSP00000355123.1:p.Thr1507Met | |
| ENST00000374708.8:c.4583C>T | ENSP00000363840.4:p.Thr1528Met | |
| ENST00000477772.1:n.631C>T | ||
| NM_080679.2:c.4520C>T | NP_542410.2:p.Thr1507Met | |
| NM_080680.2:c.4841C>T | NP_542411.2:p.Thr1614Met | |
| NM_080681.2:c.4583C>T | NP_542412.2:p.Thr1528Met | |
| XM_011514298.1:c.3995C>T | XP_011512600.1:p.Thr1332Met | |
| XM_011514299.1:c.4127C>T | XP_011512601.1:p.Thr1376Met | |
| XM_011514300.1:c.3947C>T | XP_011512602.1:p.Thr1316Met | |
| XM_011514301.1:c.3884C>T | XP_011512603.1:p.Thr1295Met | |
| XM_011514302.1:c.3728C>T | XP_011512604.1:p.Thr1243Met | |
| XM_011514299.2:c.4127C>T | XP_011512601.1:p.Thr1376Met | |
| XM_011514300.2:c.3947C>T | XP_011512602.1:p.Thr1316Met | |
| XM_011514302.2:c.3728C>T | XP_011512604.1:p.Thr1243Met | |
| XM_017010250.1:c.4841C>T | XP_016865739.1:p.Thr1614Met | |
| XM_017010251.2:c.3659C>T | XP_016865740.1:p.Thr1220Met | |
| NM_080680.3:c.4841C>T MANE Select | NP_542411.2:p.Thr1614Met | |
| NM_080681.3:c.4583C>T | NP_542412.2:p.Thr1528Met | |
| NM_080679.3:c.4520C>T | NP_542410.2:p.Thr1507Met |