Revel Score:
ENST00000447630
0.404
ENST00000011691 (MANE Select)
0.404
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002585 (NFE)
Exomes Max Group AF
0.00002711 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.42591564G>A , CM000665.2:g.42591564G>A | GRCh38 |
| NC_000003.11:g.42633056G>A , CM000665.1:g.42633056G>A | GRCh37 |
| NC_000003.10:g.42608060G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000011691.6:c.109G>A (SS18L2) MANE Select | ENSP00000011691.4:p.Glu37Lys | |
| ENST00000011691.4:c.109G>A (SS18L2) | ENSP00000011691.4:p.Glu37Lys | |
| ENST00000417572.5:c.-28+9396C>T (SEC22C) | ENSP00000407564.1:n.-28+9396C>T | |
| ENST00000447630.5:c.109G>A (SS18L2) | ENSP00000401115.1:p.Glu37Lys | |
| ENST00000450981.5:c.-179-4002C>T (SEC22C) | ENSP00000397170.1:n.-179-4002C>T | |
| ENST00000474941.1:n.291G>A (SS18L2) | ||
| NM_001201572.1:c.-28+9396C>T (SEC22C) | NP_001188501.1:n.-28+9396C>T | |
| NM_016305.2:c.109G>A (SS18L2) | NP_057389.1:p.Glu37Lys | |
| XM_011533795.1:c.109G>A (SS18L2) | XP_011532097.1:p.Glu37Lys | |
| NM_016305.3:c.109G>A (SS18L2) | NP_057389.1:p.Glu37Lys | |
| XM_017006548.1:c.109G>A (SS18L2) | XP_016862037.1:p.Glu37Lys | |
| XM_024453813.1:c.-28+9433C>T (SEC22C) | XP_024309581.1:n.-28+9433C>T | |
| XM_024453815.1:c.-28+9433C>T (SEC22C) | XP_024309583.1:n.-28+9433C>T | |
| NM_001201572.2:c.-28+9396C>T (SEC22C) | NP_001188501.1:n.-28+9396C>T | |
| NM_001370300.1:c.109G>A (SS18L2) MANE Select | NP_001357229.1:p.Glu37Lys | |
| NM_016305.4:c.109G>A (SS18L2) | NP_057389.1:p.Glu37Lys |