Revel Score:
ENST00000388768
0.076
ENST00000399200
0.076
ENST00000454950
0.076
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002555 (NFE)
Genomes Max Group AF
0.00001972 (NFE)
Exomes Max Group AF
0.0000237 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.68383841T>C , CM000672.2:g.68383841T>C | GRCh38 |
| NC_000010.10:g.70143598T>C , CM000672.1:g.70143598T>C | GRCh37 |
| NC_000010.9:g.69813604T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399200.7:c.794A>G | ENSP00000382151.2:p.Asn265Ser | |
| ENST00000602465.6:c.896A>G MANE Select | ENSP00000473462.1:p.Asn299Ser | |
| ENST00000388768.6:c.1001A>G | ENSP00000373420.2:p.Asn334Ser | |
| ENST00000399200.6:c.794A>G | ENSP00000382151.2:p.Asn265Ser | |
| ENST00000454950.6:c.722A>G | ENSP00000404986.2:p.Asn241Ser | |
| ENST00000466493.5:c.937A>G | ||
| ENST00000472394.2:n.873A>G | ||
| ENST00000602465.5:c.896A>G | ENSP00000473462.1:p.Asn299Ser | |
| NM_001042417.1:c.794A>G | NP_001035882.1:p.Asn265Ser | |
| NM_001278225.1:c.722A>G | NP_001265154.1:p.Asn241Ser | |
| NM_017987.4:c.1001A>G | NP_060457.4:p.Asn334Ser | |
| NR_103475.1:n.1176A>G | ||
| NR_103476.1:n.1001A>G | ||
| XM_005269953.3:c.899A>G | XP_005270010.1:p.Asn300Ser | |
| XM_005269955.3:c.848A>G | XP_005270012.1:p.Asn283Ser | |
| XM_005269956.3:c.1001A>G | XP_005270013.1:p.Asn334Ser | |
| XM_005269957.3:c.794A>G | XP_005270014.1:p.Asn265Ser | |
| XM_005269959.1:c.1001A>G | XP_005270016.1:p.Asn334Ser | |
| XM_005269960.1:c.899A>G | XP_005270017.1:p.Asn300Ser | |
| XM_006717911.2:c.896A>G | XP_006717974.1:p.Asn299Ser | |
| XM_011539942.1:c.896A>G | XP_011538244.1:p.Asn299Ser | |
| XM_011539943.1:c.722A>G | XP_011538245.1:p.Asn241Ser | |
| XR_246097.1:n.1328A>G | ||
| XR_945784.1:n.1328A>G | ||
| NM_001330103.1:c.896A>G | NP_001317032.1:p.Asn299Ser | |
| XM_005269953.4:c.899A>G | XP_005270010.1:p.Asn300Ser | |
| XM_005269955.4:c.848A>G | XP_005270012.1:p.Asn283Ser | |
| XM_005269956.4:c.1001A>G | XP_005270013.1:p.Asn334Ser | |
| XM_005269957.5:c.794A>G | XP_005270014.1:p.Asn265Ser | |
| XM_011539942.2:c.896A>G | XP_011538244.1:p.Asn299Ser | |
| XR_001747125.1:n.1130A>G | ||
| XR_001747126.1:n.1226A>G | ||
| XR_001747127.2:n.992A>G | ||
| XR_001747128.1:n.1385A>G | ||
| XR_001747129.1:n.907A>G | ||
| XR_001747130.2:n.1328A>G | ||
| XR_001747131.2:n.992A>G | ||
| XR_001747132.2:n.1328A>G | ||
| XR_001747133.1:n.907A>G | ||
| XR_001747134.1:n.1328A>G | ||
| XR_001747135.2:n.992A>G | ||
| XR_246097.2:n.1328A>G | ||
| NM_001330103.2:c.896A>G MANE Select | NP_001317032.1:p.Asn299Ser | |
| NR_103475.2:n.1264A>G | ||
| NR_103476.2:n.984A>G | ||
| NM_001042417.2:c.794A>G | NP_001035882.1:p.Asn265Ser | |
| NM_001278225.2:c.722A>G | NP_001265154.1:p.Asn241Ser | |
| NM_017987.5:c.1001A>G | NP_060457.4:p.Asn334Ser |