Linked Data
ClinVar Variation Id:
2579527
ClinVar RCV Id:
RCV003327962
dbSNP Id:
rs1954661324
gnomAD v4:
9-137813486-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137813486G>A , CM000671.2:g.137813486G>A | GRCh38 |
| NC_000009.11:g.140707938G>A , CM000671.1:g.140707938G>A | GRCh37 |
| NC_000009.10:g.139827759G>A | NCBI36 |
| NG_011776.1:g.199495G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460843.6:c.3136G>A MANE Select | ENSP00000417980.1:p.Val1046Met | |
| ENST00000637161.1:c.3043G>A | ENSP00000490328.1:p.Val1015Met | |
| ENST00000637261.1:c.3176G>A | ENSP00000490815.1:n.3176G>A | |
| ENST00000637891.1:c.1030G>A | ENSP00000490907.1:p.Val344Met | |
| ENST00000460843.5:c.3136G>A | ENSP00000417980.1:p.Val1046Met | |
| ENST00000462942.3:c.1993G>A | ENSP00000436107.1:p.Val665Met | |
| ENST00000488242.2:n.662G>A | ||
| NM_024757.4:c.3136G>A | NP_079033.4:p.Val1046Met | |
| XM_005266105.3:c.3127G>A | XP_005266162.1:p.Val1043Met | |
| XM_005266110.1:c.3043G>A | XP_005266167.1:p.Val1015Met | |
| XM_006717288.2:c.3118G>A | XP_006717351.1:p.Val1040Met | |
| XM_011519021.1:c.3145G>A | XP_011517323.1:p.Val1049Met | |
| XM_011519022.1:c.3142G>A | XP_011517324.1:p.Val1048Met | |
| XM_011519023.1:c.3124G>A | XP_011517325.1:p.Val1042Met | |
| XM_011519024.1:c.3067G>A | XP_011517326.1:p.Val1023Met | |
| XM_011519025.1:c.3043G>A | XP_011517327.1:p.Val1015Met | |
| XM_011519026.1:c.3001G>A | XP_011517328.1:p.Val1001Met | |
| XM_011519029.1:c.1567G>A | XP_011517331.1:p.Val523Met | |
| XM_011519030.1:c.919G>A | XP_011517332.1:p.Val307Met | |
| XM_011519031.1:c.706G>A | XP_011517333.1:p.Val236Met | |
| XM_011519032.1:c.706G>A | XP_011517334.1:p.Val236Met | |
| XM_011519033.1:c.2980G>A | XP_011517335.1:p.Val994Met | |
| NM_001354263.1:c.3115G>A | NP_001341192.1:p.Val1039Met | |
| XM_005266105.5:c.3127G>A | XP_005266162.1:p.Val1043Met | |
| XM_011519021.3:c.3145G>A | XP_011517323.1:p.Val1049Met | |
| XM_011519022.3:c.3142G>A | XP_011517324.1:p.Val1048Met | |
| XM_011519023.3:c.3124G>A | XP_011517325.1:p.Val1042Met | |
| XM_011519029.3:c.1567G>A | XP_011517331.1:p.Val523Met | |
| XM_011519030.3:c.919G>A | XP_011517332.1:p.Val307Met | |
| XM_017015134.1:c.3121G>A | XP_016870623.1:p.Val1041Met | |
| XM_017015136.2:c.3037G>A | XP_016870625.1:p.Val1013Met | |
| XM_017015137.1:c.3022G>A | XP_016870626.1:p.Val1008Met | |
| XM_017015138.1:c.3022G>A | XP_016870627.1:p.Val1008Met | |
| XM_024447674.1:c.2965G>A | XP_024303442.1:p.Val989Met | |
| XM_024447675.1:c.2899G>A | XP_024303443.1:p.Val967Met | |
| XM_024447676.1:c.2260G>A | XP_024303444.1:p.Val754Met | |
| XM_024447677.1:c.2260G>A | XP_024303445.1:p.Val754Met | |
| XM_024447680.1:c.2878G>A | XP_024303448.1:p.Val960Met | |
| NM_024757.5:c.3136G>A MANE Select | NP_079033.4:p.Val1046Met | |
| NM_001354263.2:c.3115G>A | NP_001341192.1:p.Val1039Met |