Revel Score:
ENST00000223642 (MANE Select)
0.044
ENST00000430906
0.044
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.120997683C>G , CM000671.2:g.120997683C>G | GRCh38 |
| NC_000009.11:g.123759961C>G , CM000671.1:g.123759961C>G | GRCh37 |
| NC_000009.10:g.122799782C>G | NCBI36 |
| NG_007364.1:g.57594G>C , LRG_28:g.57594G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696279.1:c.2974G>C | ||
| ENST00000696280.1:n.2743G>C | ||
| ENST00000696281.1:c.2672G>C | ENSP00000512521.1:p.Arg891Pro | |
| ENST00000697921.1:n.1532G>C | ||
| ENST00000697922.1:c.*2644G>C | ENSP00000513478.1:n.*2644G>C | |
| ENST00000697923.1:n.3259G>C | ||
| ENST00000223642.3:c.2654G>C MANE Select | ENSP00000223642.1:p.Arg885Pro | |
| ENST00000223642.2:c.2654G>C | ENSP00000223642.1:p.Arg885Pro | |
| NM_001735.2:c.2654G>C , LRG_28t1:c.2654G>C | NP_001726.2:p.Arg885Pro | |
| XM_011518980.1:c.2669G>C | XP_011517282.1:p.Arg890Pro | |
| XM_011518981.1:c.2672G>C | XP_011517283.1:p.Arg891Pro | |
| NM_001317163.1:c.2672G>C | NP_001304092.1:p.Arg891Pro | |
| NM_001317163.2:c.2672G>C | NP_001304092.1:p.Arg891Pro | |
| NM_001735.3:c.2654G>C MANE Select | NP_001726.2:p.Arg885Pro |