Revel Score:
ENST00000372487
0.201
ENST00000372479
0.201
ENST00000203616
0.201
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.107088794T>C , CM000685.2:g.107088794T>C | GRCh38 |
| NC_000023.10:g.106332024T>C , CM000685.1:g.106332024T>C | GRCh37 |
| NC_000023.9:g.106218680T>C | NCBI36 |
| NG_016385.1:g.35034A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685964.1:c.641A>G MANE Select | ENSP00000509650.1:p.Glu214Gly | |
| ENST00000372479.7:c.569A>G | ENSP00000361557.3:p.Glu190Gly | |
| ENST00000372487.5:c.569A>G | ENSP00000361565.1:p.Glu190Gly | |
| ENST00000434854.1:c.588-19392A>G | ||
| ENST00000475556.1:n.149A>G | ||
| ENST00000485676.5:n.657A>G | ||
| ENST00000495517.5:c.641A>G | ENSP00000433251.1:p.Glu214Gly | |
| NM_001171080.1:c.569A>G | NP_001164551.1:p.Glu190Gly | |
| NM_018301.3:c.569A>G | NP_060771.3:p.Glu190Gly | |
| XM_005262159.3:c.641A>G | XP_005262216.1:p.Glu214Gly | |
| XM_011530979.1:c.746A>G | XP_011529281.1:p.Glu249Gly | |
| XM_011530980.1:c.746A>G | XP_011529282.1:p.Glu249Gly | |
| XM_011530981.1:c.674A>G | XP_011529283.1:p.Glu225Gly | |
| XM_011530982.1:c.746A>G | XP_011529284.1:p.Glu249Gly | |
| XM_011530983.1:c.746A>G | XP_011529285.1:p.Glu249Gly | |
| XM_011530984.1:c.701-19392A>G | XP_011529286.1:n.701-19392A>G | |
| XM_011530985.1:c.629-19392A>G | XP_011529287.1:n.629-19392A>G | |
| NM_001324242.1:c.641A>G | NP_001311171.1:p.Glu214Gly | |
| NM_001324243.1:c.746A>G | NP_001311172.1:p.Glu249Gly | |
| NM_001324244.1:c.641A>G | NP_001311173.1:p.Glu214Gly | |
| NM_018301.4:c.569A>G | NP_060771.3:p.Glu190Gly | |
| NR_136728.1:n.650-19392A>G | ||
| NR_136729.1:n.744-19392A>G | ||
| NR_136730.1:n.695A>G | ||
| NR_136731.1:n.788A>G | ||
| NR_136732.1:n.743-19392A>G | ||
| XM_011530980.3:c.746A>G | XP_011529282.1:p.Glu249Gly | |
| XM_011530981.3:c.674A>G | XP_011529283.1:p.Glu225Gly | |
| NM_001171080.2:c.569A>G | NP_001164551.1:p.Glu190Gly | |
| NM_001324242.2:c.641A>G MANE Select | NP_001311171.1:p.Glu214Gly | |
| NM_001324244.2:c.641A>G | NP_001311173.1:p.Glu214Gly | |
| NM_018301.5:c.569A>G | NP_060771.3:p.Glu190Gly | |
| NR_136728.2:n.645-19392A>G | ||
| NR_136729.2:n.739-19392A>G | ||
| NR_136730.2:n.690A>G | ||
| NM_001394116.1:c.692A>G | NP_001381045.1:p.Glu231Gly | |
| NM_001394117.1:c.674A>G | NP_001381046.1:p.Glu225Gly | |
| NM_001394118.1:c.674A>G | NP_001381047.1:p.Glu225Gly | |
| NM_001394119.1:c.641A>G | NP_001381048.1:p.Glu214Gly | |
| NM_001394120.1:c.569A>G | NP_001381049.1:p.Glu190Gly | |
| NM_001394121.1:c.569A>G | NP_001381050.1:p.Glu190Gly | |
| NM_001394122.1:c.569A>G | NP_001381051.1:p.Glu190Gly | |
| NM_001394123.1:c.736-19392A>G | NP_001381052.1:n.736-19392A>G | |
| NM_001394124.1:c.736-19392A>G | NP_001381053.1:n.736-19392A>G | |
| NM_001394125.1:c.631-19392A>G | NP_001381054.1:n.631-19392A>G | |
| NM_001394126.1:c.631-19392A>G | NP_001381055.1:n.631-19392A>G | |
| NM_001394127.1:c.631-19464A>G | NP_001381056.1:n.631-19464A>G |