Linked Data
ClinVar Variation Id:
1224337
ClinVar RCV Id:
RCV001596875
dbSNP Id:
rs2150513407
gnomAD v4:
6-33164884-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33164884T>A , CM000668.2:g.33164884T>A | GRCh38 |
| NC_000006.11:g.33132661T>A , CM000668.1:g.33132661T>A | GRCh37 |
| NC_000006.10:g.33240639T>A | NCBI36 |
| NG_011589.1:g.32585A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683572.1:n.637A>T | ||
| ENST00000341947.7:c.4831A>T MANE Select | ENSP00000339915.2:p.Thr1611Ser | |
| ENST00000341947.6:c.4831A>T | ENSP00000339915.2:p.Thr1611Ser | |
| ENST00000361917.5:c.4510A>T | ENSP00000355123.1:p.Thr1504Ser | |
| ENST00000374708.8:c.4573A>T | ENSP00000363840.4:p.Thr1525Ser | |
| ENST00000477772.1:n.621A>T | ||
| NM_080679.2:c.4510A>T | NP_542410.2:p.Thr1504Ser | |
| NM_080680.2:c.4831A>T | NP_542411.2:p.Thr1611Ser | |
| NM_080681.2:c.4573A>T | NP_542412.2:p.Thr1525Ser | |
| XM_011514298.1:c.3985A>T | XP_011512600.1:p.Thr1329Ser | |
| XM_011514299.1:c.4117A>T | XP_011512601.1:p.Thr1373Ser | |
| XM_011514300.1:c.3937A>T | XP_011512602.1:p.Thr1313Ser | |
| XM_011514301.1:c.3874A>T | XP_011512603.1:p.Thr1292Ser | |
| XM_011514302.1:c.3718A>T | XP_011512604.1:p.Thr1240Ser | |
| XM_011514299.2:c.4117A>T | XP_011512601.1:p.Thr1373Ser | |
| XM_011514300.2:c.3937A>T | XP_011512602.1:p.Thr1313Ser | |
| XM_011514302.2:c.3718A>T | XP_011512604.1:p.Thr1240Ser | |
| XM_017010250.1:c.4831A>T | XP_016865739.1:p.Thr1611Ser | |
| XM_017010251.2:c.3649A>T | XP_016865740.1:p.Thr1217Ser | |
| NM_080680.3:c.4831A>T MANE Select | NP_542411.2:p.Thr1611Ser | |
| NM_080681.3:c.4573A>T | NP_542412.2:p.Thr1525Ser | |
| NM_080679.3:c.4510A>T | NP_542410.2:p.Thr1504Ser |