Linked Data
ClinVar Variation Id:
654930
ClinVar RCV Id:
RCV000811002
dbSNP Id:
rs371580823
ExAC:
9:140707511 C / T
gnomAD v2:
9-140707511-C-T
gnomAD v3:
9-137813059-C-T
gnomAD v4:
9-137813059-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137813059C>T , CM000671.2:g.137813059C>T | GRCh38 |
| NC_000009.11:g.140707511C>T , CM000671.1:g.140707511C>T | GRCh37 |
| NC_000009.10:g.139827332C>T | NCBI36 |
| NG_011776.1:g.199068C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460843.6:c.2921C>T MANE Select | ENSP00000417980.1:p.Thr974Met | |
| ENST00000636027.1:c.2807C>T | ENSP00000489961.1:p.Thr936Met | |
| ENST00000637161.1:c.2828C>T | ENSP00000490328.1:p.Thr943Met | |
| ENST00000637261.1:c.2961C>T | ENSP00000490815.1:n.2961C>T | |
| ENST00000637891.1:c.815C>T | ENSP00000490907.1:p.Thr272Met | |
| ENST00000460843.5:c.2921C>T | ENSP00000417980.1:p.Thr974Met | |
| ENST00000462942.3:c.1778C>T | ENSP00000436107.1:p.Thr593Met | |
| ENST00000486164.5:c.608C>T | ||
| ENST00000488242.2:n.447C>T | ||
| NM_024757.4:c.2921C>T | NP_079033.4:p.Thr974Met | |
| XM_005266105.3:c.2912C>T | XP_005266162.1:p.Thr971Met | |
| XM_005266110.1:c.2828C>T | XP_005266167.1:p.Thr943Met | |
| XM_006717288.2:c.2903C>T | XP_006717351.1:p.Thr968Met | |
| XM_011519021.1:c.2930C>T | XP_011517323.1:p.Thr977Met | |
| XM_011519022.1:c.2927C>T | XP_011517324.1:p.Thr976Met | |
| XM_011519023.1:c.2909C>T | XP_011517325.1:p.Thr970Met | |
| XM_011519024.1:c.2852C>T | XP_011517326.1:p.Thr951Met | |
| XM_011519025.1:c.2828C>T | XP_011517327.1:p.Thr943Met | |
| XM_011519026.1:c.2786C>T | XP_011517328.1:p.Thr929Met | |
| XM_011519029.1:c.1352C>T | XP_011517331.1:p.Thr451Met | |
| XM_011519030.1:c.704C>T | XP_011517332.1:p.Thr235Met | |
| XM_011519031.1:c.491C>T | XP_011517333.1:p.Thr164Met | |
| XM_011519032.1:c.491C>T | XP_011517334.1:p.Thr164Met | |
| XM_011519033.1:c.2765C>T | XP_011517335.1:p.Thr922Met | |
| NM_001354263.1:c.2900C>T | NP_001341192.1:p.Thr967Met | |
| XM_005266105.5:c.2912C>T | XP_005266162.1:p.Thr971Met | |
| XM_011519021.3:c.2930C>T | XP_011517323.1:p.Thr977Met | |
| XM_011519022.3:c.2927C>T | XP_011517324.1:p.Thr976Met | |
| XM_011519023.3:c.2909C>T | XP_011517325.1:p.Thr970Met | |
| XM_011519029.3:c.1352C>T | XP_011517331.1:p.Thr451Met | |
| XM_011519030.3:c.704C>T | XP_011517332.1:p.Thr235Met | |
| XM_017015134.1:c.2906C>T | XP_016870623.1:p.Thr969Met | |
| XM_017015136.2:c.2822C>T | XP_016870625.1:p.Thr941Met | |
| XM_017015137.1:c.2807C>T | XP_016870626.1:p.Thr936Met | |
| XM_017015138.1:c.2807C>T | XP_016870627.1:p.Thr936Met | |
| XM_024447674.1:c.2750C>T | XP_024303442.1:p.Thr917Met | |
| XM_024447675.1:c.2684C>T | XP_024303443.1:p.Thr895Met | |
| XM_024447676.1:c.2045C>T | XP_024303444.1:p.Thr682Met | |
| XM_024447677.1:c.2045C>T | XP_024303445.1:p.Thr682Met | |
| XM_024447680.1:c.2663C>T | XP_024303448.1:p.Thr888Met | |
| NM_024757.5:c.2921C>T MANE Select | NP_079033.4:p.Thr974Met | |
| NM_001354263.2:c.2900C>T | NP_001341192.1:p.Thr967Met |