Revel Score:
ENST00000269228 (MANE Select)
0.267
ENST00000412552
0.267
ENST00000540608
0.267
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.23544981C>T , CM000680.2:g.23544981C>T | GRCh38 |
| NC_000018.9:g.21124945C>T , CM000680.1:g.21124945C>T | GRCh37 |
| NC_000018.8:g.19378943C>T | NCBI36 |
| NG_012795.1:g.46637G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269228.10:c.1926G>A MANE Select | ENSP00000269228.4:p.Met642Ile | |
| ENST00000269228.9:c.1926G>A | ENSP00000269228.4:p.Met642Ile | |
| ENST00000540608.5:n.1840G>A | ||
| ENST00000591051.1:c.1004G>A | ||
| NM_000271.4:c.1926G>A | NP_000262.2:p.Met642Ile | |
| XM_005258277.1:c.1977G>A | XP_005258334.1:p.Met659Ile | |
| XM_005258278.3:c.1977G>A | XP_005258335.1:p.Met659Ile | |
| XM_005258279.1:c.1926G>A | XP_005258336.1:p.Met642Ile | |
| XM_006722479.2:c.1977G>A | XP_006722542.1:p.Met659Ile | |
| XM_011526015.1:c.1512G>A | XP_011524317.1:p.Met504Ile | |
| XM_005258278.5:c.1977G>A | XP_005258335.1:p.Met659Ile | |
| XM_005258279.2:c.1926G>A | XP_005258336.1:p.Met642Ile | |
| XM_006722479.3:c.1977G>A | XP_006722542.1:p.Met659Ile | |
| XM_017025784.1:c.1977G>A | XP_016881273.1:p.Met659Ile | |
| XM_017025785.1:c.1977G>A | XP_016881274.1:p.Met659Ile | |
| XM_017025786.1:c.1926G>A | XP_016881275.1:p.Met642Ile | |
| XM_017025787.1:c.1926G>A | XP_016881276.1:p.Met642Ile | |
| NM_000271.5:c.1926G>A MANE Select | NP_000262.2:p.Met642Ile |