Linked Data
ClinVar Variation Id:
826366
dbSNP Id:
rs1588614533
gnomAD v3:
9-95482151-T-C
gnomAD v4:
9-95482151-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.95482151T>C , CM000671.2:g.95482151T>C | GRCh38 |
| NC_000009.11:g.98244433T>C , CM000671.1:g.98244433T>C | GRCh37 |
| NC_000009.10:g.97284254T>C | NCBI36 |
| NG_007664.1:g.39815A>G , LRG_515:g.39815A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000711046.1:c.439A>G | ENSP00000518556.1:p.Thr147Ala | |
| ENST00000437951.6:c.634A>G MANE Plus Clinical | ENSP00000389744.2:p.Thr212Ala | |
| ENST00000690194.1:c.184A>G | ENSP00000509379.1:p.Thr62Ala | |
| ENST00000692981.1:c.184A>G | ENSP00000510238.1:p.Thr62Ala | |
| ENST00000331920.11:c.637A>G MANE Select | ENSP00000332353.6:p.Thr213Ala | |
| ENST00000331920.10:c.637A>G | ENSP00000332353.6:p.Thr213Ala | |
| ENST00000375274.6:c.634A>G | ENSP00000364423.2:p.Thr212Ala | |
| ENST00000375290.6:c.384-1563A>G | ENSP00000364439.2:n.384-1563A>G | |
| ENST00000418258.5:c.184A>G | ENSP00000396135.1:p.Thr62Ala | |
| ENST00000421141.5:c.184A>G | ENSP00000399981.1:p.Thr62Ala | |
| ENST00000429896.6:c.184A>G | ENSP00000414823.2:p.Thr62Ala | |
| ENST00000430669.6:c.439A>G | ENSP00000410287.2:p.Thr147Ala | |
| ENST00000437951.5:c.439A>G | ENSP00000389744.1:p.Thr147Ala | |
| ENST00000468211.6:c.439A>G | ENSP00000449745.1:p.Thr147Ala | |
| ENST00000546820.5:c.184A>G | ENSP00000448843.1:p.Thr62Ala | |
| ENST00000547672.5:c.184A>G | ENSP00000447878.1:p.Thr62Ala | |
| ENST00000548379.5:n.290A>G | ||
| ENST00000548420.1:c.-94-1563A>G | ENSP00000449078.1:n.-94-1563A>G | |
| ENST00000548945.6:n.194-1563A>G | ||
| ENST00000550136.1:n.2159A>G | ||
| ENST00000550914.6:c.219A>G | ENSP00000450047.1:p.Lys73= | |
| ENST00000551623.1:c.279A>G | ENSP00000447242.1:n.279A>G | |
| ENST00000551630.1:c.184A>G | ENSP00000450131.1:p.Thr62Ala | |
| ENST00000551845.5:c.184A>G | ENSP00000447008.1:p.Thr62Ala | |
| ENST00000553011.5:c.184A>G | ENSP00000447797.1:p.Thr62Ala | |
| ENST00000553256.5:n.383A>G | ||
| NM_000264.3:c.637A>G , LRG_515t1:c.637A>G | NP_000255.2:p.Thr213Ala | |
| NM_001083602.1:c.439A>G , LRG_515t2:c.439A>G | NP_001077071.1:p.Thr147Ala | |
| NM_001083603.1:c.634A>G | NP_001077072.1:p.Thr212Ala | |
| NM_001083604.1:c.184A>G | NP_001077073.1:p.Thr62Ala | |
| NM_001083605.1:c.184A>G | NP_001077074.1:p.Thr62Ala | |
| NM_001083606.1:c.184A>G | NP_001077075.1:p.Thr62Ala | |
| NM_001083607.1:c.184A>G | NP_001077076.1:p.Thr62Ala | |
| XM_005252102.2:c.184A>G | XP_005252159.1:p.Thr62Ala | |
| XM_011518868.1:c.637A>G | XP_011517170.1:p.Thr213Ala | |
| XM_011518869.1:c.184A>G | XP_011517171.1:p.Thr62Ala | |
| XM_011518870.1:c.184A>G | XP_011517172.1:p.Thr62Ala | |
| XM_011518871.1:c.184A>G | XP_011517173.1:p.Thr62Ala | |
| XM_011518872.1:c.184A>G | XP_011517174.1:p.Thr62Ala | |
| XM_011518873.1:c.-94-1563A>G | XP_011517175.1:n.-94-1563A>G | |
| XM_011518874.1:c.637A>G | XP_011517176.1:p.Thr213Ala | |
| NM_000264.4:c.637A>G | NP_000255.2:p.Thr213Ala | |
| NM_001083602.2:c.439A>G | NP_001077071.1:p.Thr147Ala | |
| NM_001083603.2:c.634A>G | NP_001077072.1:p.Thr212Ala | |
| NM_001083604.2:c.184A>G | NP_001077073.1:p.Thr62Ala | |
| NM_001083605.2:c.184A>G | NP_001077074.1:p.Thr62Ala | |
| NM_001083606.2:c.184A>G | NP_001077075.1:p.Thr62Ala | |
| NM_001083607.2:c.184A>G | NP_001077076.1:p.Thr62Ala | |
| NM_001354918.1:c.637A>G | NP_001341847.1:p.Thr213Ala | |
| NM_001354919.1:c.439A>G | NP_001341848.1:p.Thr147Ala | |
| NR_149061.1:n.825A>G | ||
| NM_000264.5:c.637A>G MANE Select | NP_000255.2:p.Thr213Ala | |
| NM_001083606.3:c.184A>G | NP_001077075.1:p.Thr62Ala | |
| NM_001354918.2:c.637A>G | NP_001341847.1:p.Thr213Ala | |
| NR_149061.2:n.1542A>G | ||
| NM_001083602.3:c.439A>G | NP_001077071.1:p.Thr147Ala | |
| NM_001083603.3:c.634A>G MANE Plus Clinical | NP_001077072.1:p.Thr212Ala | |
| NM_001083604.3:c.184A>G | NP_001077073.1:p.Thr62Ala | |
| NM_001083605.3:c.184A>G | NP_001077074.1:p.Thr62Ala | |
| NM_001083607.3:c.184A>G | NP_001077076.1:p.Thr62Ala | |
| NM_001354919.2:c.439A>G | NP_001341848.1:p.Thr147Ala |