Revel Score:
ENST00000308009
0.088
ENST00000447225
0.088
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7042968T>G , CM000679.2:g.7042968T>G | GRCh38 |
| NC_000017.10:g.6946287T>G , CM000679.1:g.6946287T>G | GRCh37 |
| NC_000017.9:g.6887011T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000574600.3:c.308A>C MANE Select | ENSP00000460927.2:p.Asp103Ala | |
| ENST00000662352.3:c.308A>C | ENSP00000499634.1:p.Asp103Ala | |
| ENST00000673828.2:c.308A>C | ENSP00000501313.1:p.Asp103Ala | |
| ENST00000308009.5:c.380A>C | ENSP00000310490.1:p.Asp127Ala | |
| ENST00000447225.1:c.308A>C | ENSP00000394449.1:p.Asp103Ala | |
| ENST00000573338.1:n.639A>C | ||
| NM_153357.1:c.380A>C | NP_699188.1:p.Asp127Ala | |
| XM_005256488.2:c.665A>C | XP_005256545.2:p.Asp222Ala | |
| XM_011523696.1:c.665A>C | XP_011521998.1:p.Asp222Ala | |
| XM_005256488.4:c.665A>C | XP_005256545.2:p.Asp222Ala | |
| XM_017024281.1:c.665A>C | XP_016879770.1:p.Asp222Ala | |
| XM_017024282.2:c.665A>C | XP_016879771.1:p.Asp222Ala | |
| NM_153357.2:c.308A>C | NP_699188.2:p.Asp103Ala | |
| NM_001370549.1:c.308A>C MANE Select | NP_001357478.1:p.Asp103Ala | |
| NM_001370553.1:c.308A>C | NP_001357482.1:p.Asp103Ala | |
| NM_153357.3:c.308A>C | NP_699188.2:p.Asp103Ala |