Linked Data
ClinVar Variation Id:
102961
ClinVar RCV Id:
RCV000089221
dbSNP Id:
rs199475944
gnomAD v3:
16-3548727-T-G
gnomAD v4:
16-3548727-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3548727T>G , CM000678.2:g.3548727T>G | GRCh38 |
| NC_000016.9:g.3598727T>G , CM000678.1:g.3598727T>G | GRCh37 |
| NC_000016.8:g.3538728T>G | NCBI36 |
| NG_033123.1:g.33665A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359128.10:c.2630A>C MANE Select | ENSP00000352039.6:p.Gln877Pro | |
| ENST00000324659.12:c.2771A>C | ENSP00000323897.9:p.Gln924Pro | |
| ENST00000359128.9:c.2630A>C | ENSP00000352039.6:p.Gln877Pro | |
| ENST00000448023.6:c.2630A>C | ENSP00000414415.3:p.Gln877Pro | |
| ENST00000615877.4:c.*480A>C | ENSP00000482989.1:n.*480A>C | |
| ENST00000618137.1:c.504+415A>C | ||
| NM_178844.3:c.2630A>C | NP_849172.2:p.Gln877Pro | |
| NR_075083.2:n.3251A>C | ||
| XM_011522416.1:c.2630A>C | XP_011520718.1:p.Gln877Pro | |
| XM_011522417.1:c.2630A>C | XP_011520719.1:p.Gln877Pro | |
| XM_011522418.1:c.2630A>C | XP_011520720.1:p.Gln877Pro | |
| XM_011522419.1:c.2630A>C | XP_011520721.1:p.Gln877Pro | |
| XM_011522420.1:c.2630A>C | XP_011520722.1:p.Gln877Pro | |
| XM_011522421.1:c.2630A>C | XP_011520723.1:p.Gln877Pro | |
| XM_011522422.1:c.2630A>C | XP_011520724.1:p.Gln877Pro | |
| XM_011522423.1:c.2630A>C | XP_011520725.1:p.Gln877Pro | |
| XR_243342.2:n.501+2729T>G | ||
| XR_933023.1:n.501+2729T>G | ||
| XR_933024.1:n.466+2729T>G | ||
| XR_933025.1:n.411+2729T>G | ||
| XM_017023027.2:c.2657A>C | XP_016878516.1:p.Gln886Pro | |
| XM_017023028.2:c.2657A>C | XP_016878517.1:p.Gln886Pro | |
| XM_017023029.2:c.2657A>C | XP_016878518.1:p.Gln886Pro | |
| XM_017023030.2:c.2657A>C | XP_016878519.1:p.Gln886Pro | |
| XM_017023031.2:c.2657A>C | XP_016878520.1:p.Gln886Pro | |
| XM_017023033.2:c.2657A>C | XP_016878522.1:p.Gln886Pro | |
| XM_017023034.2:c.2657A>C | XP_016878523.1:p.Gln886Pro | |
| XM_017023035.2:c.2657A>C | XP_016878524.1:p.Gln886Pro | |
| XM_017023036.2:c.2657A>C | XP_016878525.1:p.Gln886Pro | |
| XM_017023037.2:c.2552A>C | XP_016878526.1:p.Gln851Pro | |
| XM_017023038.2:c.2525A>C | XP_016878527.1:p.Gln842Pro | |
| XM_017023039.1:c.2657A>C | XP_016878528.1:p.Gln886Pro | |
| XR_001752059.2:n.2497+2729T>G | ||
| XR_001752060.2:n.2497+2729T>G | ||
| NM_178844.4:c.2630A>C MANE Select | NP_849172.2:p.Gln877Pro | |
| NR_075083.3:n.3250A>C |