Linked Data
ClinVar Variation Id:
538515
ClinVar RCV Id:
RCV000647845
dbSNP Id:
rs955095527
gnomAD v2:
12-939284-G-A
gnomAD v3:
12-830118-G-A
gnomAD v4:
12-830118-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.830118G>A , CM000674.2:g.830118G>A | GRCh38 |
| NC_000012.11:g.939284G>A , CM000674.1:g.939284G>A | GRCh37 |
| NC_000012.10:g.809545G>A | NCBI36 |
| NG_007984.2:g.82060G>A | |
| NG_007984.3:g.82060G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000315939.11:c.1269G>A MANE Select | ENSP00000313059.6:p.Ser423= | |
| ENST00000340908.9:c.1269G>A MANE Plus Clinical | ENSP00000341292.5:p.Ser423= | |
| ENST00000315939.10:c.1269G>A | ENSP00000313059.6:p.Ser423= | |
| ENST00000340908.8:c.1269G>A | ENSP00000341292.5:p.Ser423= | |
| ENST00000530271.6:c.1269G>A | ENSP00000433548.3:p.Ser423= | |
| ENST00000535572.5:c.1269G>A | ENSP00000441972.1:p.Ser423= | |
| ENST00000537687.5:c.1269G>A | ENSP00000444465.1:p.Ser423= | |
| ENST00000540360.5:n.194G>A | ||
| NM_001184985.1:c.1269G>A | NP_001171914.1:p.Ser423= | |
| NM_014823.2:c.1269G>A | NP_055638.2:p.Ser423= | |
| NM_018979.3:c.1269G>A | NP_061852.3:p.Ser423= | |
| NM_213655.4:c.1269G>A | NP_998820.3:p.Ser423= | |
| XM_006719003.1:c.1269G>A | XP_006719066.1:p.Ser423= | |
| XM_011520997.1:c.1269G>A | XP_011519299.1:p.Ser423= | |
| XM_011520998.1:c.1269G>A | XP_011519300.1:p.Ser423= | |
| XM_011520999.1:c.1269G>A | XP_011519301.1:p.Ser423= | |
| XM_011521000.1:c.1269G>A | XP_011519302.1:p.Ser423= | |
| XM_011521001.1:c.1269G>A | XP_011519303.1:p.Ser423= | |
| XM_011521002.1:c.1269G>A | XP_011519304.1:p.Ser423= | |
| XM_011521003.1:c.1269G>A | XP_011519305.1:p.Ser423= | |
| XM_011521004.1:c.1269G>A | XP_011519306.1:p.Ser423= | |
| XM_011521006.1:c.1269G>A | XP_011519308.1:p.Ser423= | |
| XM_011521007.1:c.1269G>A | XP_011519309.1:p.Ser423= | |
| XM_011521008.1:c.1269G>A | XP_011519310.1:p.Ser423= | |
| XM_011521009.1:c.1269G>A | XP_011519311.1:p.Ser423= | |
| XM_006719003.2:c.1269G>A | XP_006719066.1:p.Ser423= | |
| XM_011520997.3:c.1269G>A | XP_011519299.1:p.Ser423= | |
| XM_011520998.2:c.1269G>A | XP_011519300.1:p.Ser423= | |
| XM_011520999.2:c.1269G>A | XP_011519301.1:p.Ser423= | |
| XM_011521000.2:c.1269G>A | XP_011519302.1:p.Ser423= | |
| XM_011521001.2:c.1269G>A | XP_011519303.1:p.Ser423= | |
| XM_011521002.2:c.1269G>A | XP_011519304.1:p.Ser423= | |
| XM_011521003.2:c.1269G>A | XP_011519305.1:p.Ser423= | |
| XM_011521004.2:c.1269G>A | XP_011519306.1:p.Ser423= | |
| XM_011521006.2:c.1269G>A | XP_011519308.1:p.Ser423= | |
| XM_011521007.2:c.1269G>A | XP_011519309.1:p.Ser423= | |
| XM_011521008.2:c.1269G>A | XP_011519310.1:p.Ser423= | |
| XM_011521009.2:c.1269G>A | XP_011519311.1:p.Ser423= | |
| XM_017019834.1:c.1269G>A | XP_016875323.1:p.Ser423= | |
| XM_017019835.1:c.1269G>A | XP_016875324.1:p.Ser423= | |
| XM_017019836.1:c.1269G>A | XP_016875325.1:p.Ser423= | |
| XM_017019837.1:c.1269G>A | XP_016875326.1:p.Ser423= | |
| XM_017019838.1:c.1269G>A | XP_016875327.1:p.Ser423= | |
| XM_017019839.1:c.1269G>A | XP_016875328.1:p.Ser423= | |
| NM_018979.4:c.1269G>A MANE Select | NP_061852.3:p.Ser423= | |
| NM_014823.3:c.1269G>A | NP_055638.2:p.Ser423= | |
| NM_001184985.2:c.1269G>A | NP_001171914.1:p.Ser423= | |
| NM_213655.5:c.1269G>A MANE Plus Clinical | NP_998820.3:p.Ser423= |