Revel Score:
ENST00000322507 (MANE Select)
0.342
ENST00000425443
0.342
ENST00000432784
0.342
ENST00000345356
0.342
ENST00000416123
0.342
ENST00000483888
0.342
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.75119142T>C , CM000668.2:g.75119142T>C | GRCh38 |
| NC_000006.11:g.75828858T>C , CM000668.1:g.75828858T>C | GRCh37 |
| NC_000006.10:g.75885578T>C | NCBI36 |
| NG_042181.1:g.91766A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322507.13:c.7255A>G MANE Select | ENSP00000325146.8:p.Ser2419Gly | |
| ENST00000322507.12:c.7255A>G | ENSP00000325146.8:p.Ser2419Gly | |
| ENST00000345356.10:c.3763A>G | ENSP00000305147.9:p.Ser1255Gly | |
| ENST00000416123.6:c.7255A>G | ENSP00000412864.2:p.Ser2419Gly | |
| ENST00000425443.6:c.169A>G | ENSP00000399812.2:p.Ser57Gly | |
| ENST00000483888.6:c.7255A>G | ENSP00000421216.1:p.Ser2419Gly | |
| ENST00000615798.4:c.3688A>G | ENSP00000483232.1:p.Ser1230Gly | |
| NM_004370.5:c.7255A>G | NP_004361.3:p.Ser2419Gly | |
| NM_080645.2:c.3763A>G | NP_542376.2:p.Ser1255Gly | |
| XM_011535434.1:c.7255A>G | XP_011533736.1:p.Ser2419Gly | |
| XM_011535435.1:c.6982A>G | XP_011533737.1:p.Ser2328Gly | |
| XM_011535436.1:c.3763A>G | XP_011533738.1:p.Ser1255Gly | |
| XM_011535436.2:c.3763A>G | XP_011533738.1:p.Ser1255Gly | |
| XM_017010252.2:c.7219A>G | XP_016865741.1:p.Ser2407Gly | |
| NM_004370.6:c.7255A>G MANE Select | NP_004361.3:p.Ser2419Gly | |
| NM_080645.3:c.3763A>G | NP_542376.2:p.Ser1255Gly |