Revel Score:
ENST00000539935 (MANE Select)
0.247
ENST00000439467
0.247
ENST00000427385
0.247
ENST00000201943
0.247
ENST00000339254
0.247
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00010629 (NFE)
Genomes Max Group AF
0.00010175 (NFE)
Exomes Max Group AF
0.00010287 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.152098386T>G , CM000664.2:g.152098386T>G | GRCh38 |
| NC_000002.11:g.152954900T>G , CM000664.1:g.152954900T>G | GRCh37 |
| NC_000002.10:g.152663146T>G | NCBI36 |
| NG_012641.1:g.5694A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000201943.10:c.91A>C | ENSP00000201943.5:p.Ser31Arg | |
| ENST00000427385.6:c.91A>C | ENSP00000410978.2:p.Ser31Arg | |
| ENST00000470066.2:n.220A>C | ||
| ENST00000539935.7:c.91A>C MANE Select | ENSP00000438949.1:p.Ser31Arg | |
| ENST00000636129.1:c.37A>C | ENSP00000489912.1:p.Ser13Arg | |
| ENST00000636442.1:c.37A>C | ENSP00000489779.1:p.Ser13Arg | |
| ENST00000636496.1:c.-211A>C | ENSP00000490249.1:n.-211A>C | |
| ENST00000636762.1:c.37A>C | ENSP00000490918.1:p.Ser13Arg | |
| ENST00000636785.1:c.37A>C | ENSP00000489788.1:p.Ser13Arg | |
| ENST00000637309.1:c.91A>C | ENSP00000490127.1:p.Ser31Arg | |
| ENST00000637913.1:n.76A>C | ||
| ENST00000638005.1:c.37A>C | ENSP00000489677.1:p.Ser13Arg | |
| ENST00000201943.9:c.91A>C | ENSP00000201943.5:p.Ser31Arg | |
| ENST00000427385.5:c.37A>C | ENSP00000410978.1:p.Ser13Arg | |
| ENST00000439467.5:c.76A>C | ENSP00000390161.1:p.Ser26Arg | |
| ENST00000539935.5:c.91A>C | ENSP00000438949.1:p.Ser31Arg | |
| NM_000726.3:c.91A>C | NP_000717.2:p.Ser31Arg | |
| NM_001005746.2:c.37A>C | NP_001005746.1:p.Ser13Arg | |
| NM_001145798.1:c.91A>C | NP_001139270.1:p.Ser31Arg | |
| XM_011511797.1:c.91A>C | XP_011510099.1:p.Ser31Arg | |
| XM_011511798.1:c.91A>C | XP_011510100.1:p.Ser31Arg | |
| XM_011511799.1:c.91A>C | XP_011510101.1:p.Ser31Arg | |
| XR_923022.1:n.1068A>C | ||
| XR_923023.1:n.1068A>C | ||
| NM_000726.4:c.91A>C | NP_000717.2:p.Ser31Arg | |
| NM_001005746.3:c.37A>C | NP_001005746.1:p.Ser13Arg | |
| NM_001145798.2:c.91A>C | NP_001139270.1:p.Ser31Arg | |
| NM_001330113.1:c.37A>C | NP_001317042.1:p.Ser13Arg | |
| XM_011511797.3:c.91A>C | XP_011510099.1:p.Ser31Arg | |
| XM_017004888.2:c.37A>C | XP_016860377.1:p.Ser13Arg | |
| XR_002959337.1:n.244A>C | ||
| XR_923022.3:n.244A>C | ||
| NM_001005746.4:c.37A>C | NP_001005746.1:p.Ser13Arg | |
| NM_001330113.2:c.37A>C | NP_001317042.1:p.Ser13Arg | |
| NM_000726.5:c.91A>C MANE Select | NP_000717.2:p.Ser31Arg |