Revel Score:
ENST00000376238 (MANE Select)
0.771
ENST00000537648
0.771
gnomAD v4:
Joint Max Group AF
0.00000875 (SAS)
Exomes Max Group AF
0.00000924 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.84290204C>T , CM000671.2:g.84290204C>T | GRCh38 |
| NC_000009.11:g.86905119C>T , CM000671.1:g.86905119C>T | GRCh37 |
| NC_000009.10:g.86094939C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376238.5:c.1099G>A MANE Select | ENSP00000365413.4:p.Gly367Arg | |
| ENST00000376238.4:c.1099G>A | ENSP00000365413.4:p.Gly367Arg | |
| NM_001199633.1:c.1099G>A | NP_001186562.1:p.Gly367Arg | |
| NM_022127.2:c.1099G>A | NP_071410.1:p.Gly367Arg | |
| NR_037638.2:n.1421G>A | ||
| XM_011518905.1:c.1183G>A | XP_011517207.1:p.Gly395Arg | |
| XM_011518906.1:c.1183G>A | XP_011517208.1:p.Gly395Arg | |
| XM_011518907.1:c.850G>A | XP_011517209.1:p.Gly284Arg | |
| XM_011518908.1:c.460G>A | XP_011517210.1:p.Gly154Arg | |
| XM_011518910.1:c.*116G>A | XP_011517212.1:n.*116G>A | |
| XR_929832.1:n.1310G>A | ||
| XM_011518905.2:c.1183G>A | XP_011517207.1:p.Gly395Arg | |
| XM_011518906.2:c.1183G>A | XP_011517208.1:p.Gly395Arg | |
| XM_011518907.2:c.850G>A | XP_011517209.1:p.Gly284Arg | |
| XM_011518908.2:c.460G>A | XP_011517210.1:p.Gly154Arg | |
| XM_011518910.2:c.*116G>A | XP_011517212.1:n.*116G>A | |
| XR_929832.2:n.1315G>A | ||
| NM_001199633.2:c.1099G>A MANE Select | NP_001186562.1:p.Gly367Arg | |
| NM_022127.3:c.1099G>A | NP_071410.1:p.Gly367Arg | |
| NR_037638.3:n.1400G>A |