Revel Score:
ENST00000269228 (MANE Select)
0.962
ENST00000412552
0.962
gnomAD v4:
Joint Max Group AF
0.00000124 (NFE)
Exomes Max Group AF
0.00000132 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.23535683T>C , CM000680.2:g.23535683T>C | GRCh38 |
| NC_000018.9:g.21115647T>C , CM000680.1:g.21115647T>C | GRCh37 |
| NC_000018.8:g.19369645T>C | NCBI36 |
| NG_012795.1:g.55935A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269228.10:c.3263A>G MANE Select | ENSP00000269228.4:p.Tyr1088Cys | |
| ENST00000269228.9:c.3263A>G | ENSP00000269228.4:p.Tyr1088Cys | |
| ENST00000586150.5:c.18A>G | ||
| ENST00000588867.1:n.18A>G | ||
| ENST00000591051.1:c.2341A>G | ||
| NM_000271.4:c.3263A>G | NP_000262.2:p.Tyr1088Cys | |
| XM_005258277.1:c.3314A>G | XP_005258334.1:p.Tyr1105Cys | |
| XM_005258278.3:c.3314A>G | XP_005258335.1:p.Tyr1105Cys | |
| XM_005258279.1:c.3263A>G | XP_005258336.1:p.Tyr1088Cys | |
| XM_006722479.2:c.3314A>G | XP_006722542.1:p.Tyr1105Cys | |
| XM_011526015.1:c.2849A>G | XP_011524317.1:p.Tyr950Cys | |
| XM_005258278.5:c.3314A>G | XP_005258335.1:p.Tyr1105Cys | |
| XM_005258279.2:c.3263A>G | XP_005258336.1:p.Tyr1088Cys | |
| XM_006722479.3:c.3314A>G | XP_006722542.1:p.Tyr1105Cys | |
| XM_017025784.1:c.3314A>G | XP_016881273.1:p.Tyr1105Cys | |
| XM_017025785.1:c.3314A>G | XP_016881274.1:p.Tyr1105Cys | |
| XM_017025786.1:c.3263A>G | XP_016881275.1:p.Tyr1088Cys | |
| XM_017025787.1:c.3263A>G | XP_016881276.1:p.Tyr1088Cys | |
| NM_000271.5:c.3263A>G MANE Select | NP_000262.2:p.Tyr1088Cys |