Linked Data
ClinVar Variation Id:
450488
dbSNP Id:
rs1557180289
gnomAD v2:
X-153599598-A-G
gnomAD v4:
X-154371230-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154371230A>G , CM000685.2:g.154371230A>G | GRCh38 |
| NC_000023.10:g.153599598A>G , CM000685.1:g.153599598A>G | GRCh37 |
| NC_000023.9:g.153252792A>G | NCBI36 |
| NG_008677.1:g.1803A>G , LRG_745:g.1803A>G | |
| NG_011506.1:g.8409T>C | |
| NG_011506.2:g.8409T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360319.9:c.16T>C | ENSP00000353467.4:p.Ser6Pro | |
| ENST00000369850.10:c.16T>C MANE Select | ENSP00000358866.3:p.Ser6Pro | |
| ENST00000422373.6:c.16T>C | ENSP00000416926.2:p.Ser6Pro | |
| ENST00000610817.5:c.16T>C | ENSP00000480593.2:p.Ser6Pro | |
| ENST00000676696.1:c.16T>C | ENSP00000503392.1:p.Ser6Pro | |
| ENST00000344736.8:c.16T>C | ENSP00000358863.3:p.Ser6Pro | |
| ENST00000360319.8:c.16T>C | ENSP00000353467.4:p.Ser6Pro | |
| ENST00000369850.7:c.16T>C | ENSP00000358866.3:p.Ser6Pro | |
| ENST00000422373.5:c.16T>C | ENSP00000416926.1:p.Ser6Pro | |
| ENST00000610817.4:c.-66T>C | ENSP00000480593.1:n.-66T>C | |
| NM_001110556.1:c.16T>C | NP_001104026.1:p.Ser6Pro | |
| NM_001456.3:c.16T>C | NP_001447.2:p.Ser6Pro | |
| XM_011531127.1:c.16T>C | XP_011529429.1:p.Ser6Pro | |
| XM_011531128.1:c.16T>C | XP_011529430.1:p.Ser6Pro | |
| XM_011531129.1:c.16T>C | XP_011529431.1:p.Ser6Pro | |
| XM_011531130.1:c.16T>C | XP_011529432.1:p.Ser6Pro | |
| XM_011531131.1:c.16T>C | XP_011529433.1:p.Ser6Pro | |
| NM_001110556.2:c.16T>C MANE Select | NP_001104026.1:p.Ser6Pro | |
| NM_001456.4:c.16T>C | NP_001447.2:p.Ser6Pro |