Linked Data
ClinVar Variation Id:
2139368
ClinVar RCV Id:
RCV003066582
dbSNP Id:
rs1437940191
gnomAD v2:
6-33132650-C-T
gnomAD v3:
6-33164873-C-T
gnomAD v4:
6-33164873-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33164873C>T , CM000668.2:g.33164873C>T | GRCh38 |
| NC_000006.11:g.33132650C>T , CM000668.1:g.33132650C>T | GRCh37 |
| NC_000006.10:g.33240628C>T | NCBI36 |
| NG_011589.1:g.32596G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683572.1:n.648G>A | ||
| ENST00000341947.7:c.4842G>A MANE Select | ENSP00000339915.2:p.Thr1614= | |
| ENST00000341947.6:c.4842G>A | ENSP00000339915.2:p.Thr1614= | |
| ENST00000361917.5:c.4521G>A | ENSP00000355123.1:p.Thr1507= | |
| ENST00000374708.8:c.4584G>A | ENSP00000363840.4:p.Thr1528= | |
| ENST00000477772.1:n.632G>A | ||
| NM_080679.2:c.4521G>A | NP_542410.2:p.Thr1507= | |
| NM_080680.2:c.4842G>A | NP_542411.2:p.Thr1614= | |
| NM_080681.2:c.4584G>A | NP_542412.2:p.Thr1528= | |
| XM_011514298.1:c.3996G>A | XP_011512600.1:p.Thr1332= | |
| XM_011514299.1:c.4128G>A | XP_011512601.1:p.Thr1376= | |
| XM_011514300.1:c.3948G>A | XP_011512602.1:p.Thr1316= | |
| XM_011514301.1:c.3885G>A | XP_011512603.1:p.Thr1295= | |
| XM_011514302.1:c.3729G>A | XP_011512604.1:p.Thr1243= | |
| XM_011514299.2:c.4128G>A | XP_011512601.1:p.Thr1376= | |
| XM_011514300.2:c.3948G>A | XP_011512602.1:p.Thr1316= | |
| XM_011514302.2:c.3729G>A | XP_011512604.1:p.Thr1243= | |
| XM_017010250.1:c.4842G>A | XP_016865739.1:p.Thr1614= | |
| XM_017010251.2:c.3660G>A | XP_016865740.1:p.Thr1220= | |
| NM_080680.3:c.4842G>A MANE Select | NP_542411.2:p.Thr1614= | |
| NM_080681.3:c.4584G>A | NP_542412.2:p.Thr1528= | |
| NM_080679.3:c.4521G>A | NP_542410.2:p.Thr1507= |