Linked Data
ClinVar Variation Id:
135100
dbSNP Id:
rs2236405
ExAC:
9:98211572 T / A
gnomAD v2:
9-98211572-T-A
gnomAD v3:
9-95449290-T-A
gnomAD v4:
9-95449290-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.95449290T>A , CM000671.2:g.95449290T>A | GRCh38 |
| NC_000009.11:g.98211572T>A , CM000671.1:g.98211572T>A | GRCh37 |
| NC_000009.10:g.97251393T>A | NCBI36 |
| NG_007664.1:g.72676A>T , LRG_515:g.72676A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000711046.1:c.3385A>T | ENSP00000518556.1:p.Thr1129Ser | |
| ENST00000437951.6:c.3580A>T MANE Plus Clinical | ENSP00000389744.2:p.Thr1194Ser | |
| ENST00000687744.1:n.1780A>T | ||
| ENST00000690194.1:c.*1891A>T | ENSP00000509379.1:n.*1891A>T | |
| ENST00000692981.1:c.3130A>T | ENSP00000510238.1:p.Thr1044Ser | |
| ENST00000693534.1:n.930A>T | ||
| ENST00000331920.11:c.3583A>T MANE Select | ENSP00000332353.6:p.Thr1195Ser | |
| ENST00000331920.10:c.3583A>T | ENSP00000332353.6:p.Thr1195Ser | |
| ENST00000375274.6:c.3580A>T | ENSP00000364423.2:p.Thr1194Ser | |
| ENST00000375290.6:c.6889A>T | ENSP00000364439.2:n.6889A>T | |
| ENST00000418258.5:c.3130A>T | ENSP00000396135.1:p.Thr1044Ser | |
| ENST00000421141.5:c.3130A>T | ENSP00000399981.1:p.Thr1044Ser | |
| ENST00000429896.6:c.3130A>T | ENSP00000414823.2:p.Thr1044Ser | |
| ENST00000430669.6:c.3385A>T | ENSP00000410287.2:p.Thr1129Ser | |
| ENST00000437951.5:c.3385A>T | ENSP00000389744.1:p.Thr1129Ser | |
| ENST00000546744.5:n.647A>T | ||
| NM_000264.3:c.3583A>T , LRG_515t1:c.3583A>T | NP_000255.2:p.Thr1195Ser | |
| NM_001083602.1:c.3385A>T , LRG_515t2:c.3385A>T | NP_001077071.1:p.Thr1129Ser | |
| NM_001083603.1:c.3580A>T | NP_001077072.1:p.Thr1194Ser | |
| NM_001083604.1:c.3130A>T | NP_001077073.1:p.Thr1044Ser | |
| NM_001083605.1:c.3130A>T | NP_001077074.1:p.Thr1044Ser | |
| NM_001083606.1:c.3130A>T | NP_001077075.1:p.Thr1044Ser | |
| NM_001083607.1:c.3130A>T | NP_001077076.1:p.Thr1044Ser | |
| XM_005252102.2:c.3130A>T | XP_005252159.1:p.Thr1044Ser | |
| XM_011518868.1:c.3427A>T | XP_011517170.1:p.Thr1143Ser | |
| XM_011518869.1:c.3130A>T | XP_011517171.1:p.Thr1044Ser | |
| XM_011518870.1:c.3130A>T | XP_011517172.1:p.Thr1044Ser | |
| XM_011518871.1:c.3130A>T | XP_011517173.1:p.Thr1044Ser | |
| XM_011518872.1:c.3130A>T | XP_011517174.1:p.Thr1044Ser | |
| XM_011518873.1:c.2743A>T | XP_011517175.1:p.Thr915Ser | |
| NM_000264.4:c.3583A>T | NP_000255.2:p.Thr1195Ser | |
| NM_001083602.2:c.3385A>T | NP_001077071.1:p.Thr1129Ser | |
| NM_001083603.2:c.3580A>T | NP_001077072.1:p.Thr1194Ser | |
| NM_001083604.2:c.3130A>T | NP_001077073.1:p.Thr1044Ser | |
| NM_001083605.2:c.3130A>T | NP_001077074.1:p.Thr1044Ser | |
| NM_001083606.2:c.3130A>T | NP_001077075.1:p.Thr1044Ser | |
| NM_001083607.2:c.3130A>T | NP_001077076.1:p.Thr1044Ser | |
| NM_001354918.1:c.3427A>T | NP_001341847.1:p.Thr1143Ser | |
| NR_149061.1:n.3605A>T | ||
| NM_000264.5:c.3583A>T MANE Select | NP_000255.2:p.Thr1195Ser | |
| NM_001083606.3:c.3130A>T | NP_001077075.1:p.Thr1044Ser | |
| NM_001354918.2:c.3427A>T | NP_001341847.1:p.Thr1143Ser | |
| NR_149061.2:n.4322A>T | ||
| NM_001083602.3:c.3385A>T | NP_001077071.1:p.Thr1129Ser | |
| NM_001083603.3:c.3580A>T MANE Plus Clinical | NP_001077072.1:p.Thr1194Ser | |
| NM_001083604.3:c.3130A>T | NP_001077073.1:p.Thr1044Ser | |
| NM_001083605.3:c.3130A>T | NP_001077074.1:p.Thr1044Ser | |
| NM_001083607.3:c.3130A>T | NP_001077076.1:p.Thr1044Ser |