Revel Score:
ENST00000358273 (MANE Select)
0.946
ENST00000356175
0.946
ENST00000456735
0.946
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.31334867T>C , CM000679.2:g.31334867T>C | GRCh38 |
| NC_000017.10:g.29661885T>C , CM000679.1:g.29661885T>C | GRCh37 |
| NC_000017.9:g.26686011T>C | NCBI36 |
| NG_009018.1:g.244891T>C , LRG_214:g.244891T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000581113.7:c.2030T>C | ENSP00000492721.2:n.2030T>C | |
| ENST00000696138.1:c.5824T>C | ENSP00000512431.1:p.Tyr1942His | |
| ENST00000684826.1:c.406T>C | ENSP00000509994.1:p.Tyr136His | |
| ENST00000687027.1:c.-3T>C | ENSP00000508715.1:n.-3T>C | |
| ENST00000687863.1:n.2487T>C | ||
| ENST00000691014.1:c.5872T>C | ENSP00000510595.1:p.Tyr1958His | |
| ENST00000693617.1:c.406T>C | ENSP00000510031.1:p.Tyr136His | |
| ENST00000358273.9:c.5842T>C MANE Select | ENSP00000351015.4:p.Tyr1948His | |
| ENST00000356175.7:c.5779T>C | ENSP00000348498.3:p.Tyr1927His | |
| ENST00000358273.8:c.5842T>C | ENSP00000351015.4:p.Tyr1948His | |
| ENST00000456735.6:c.4777T>C | ENSP00000389907.2:p.Tyr1593His | |
| ENST00000479536.2:c.267T>C | ||
| ENST00000579081.5:c.5978T>C | ENSP00000462408.1:n.5978T>C | |
| ENST00000581113.6:n.1159T>C | ||
| NM_000267.3:c.5779T>C , LRG_214t1:c.5779T>C | NP_000258.1:p.Tyr1927His | |
| NM_001042492.2:c.5842T>C , LRG_214t2:c.5842T>C | NP_001035957.1:p.Tyr1948His | |
| XM_005257983.1:c.5842T>C | XP_005258040.1:p.Tyr1948His | |
| XM_005257984.1:c.5779T>C | XP_005258041.1:p.Tyr1927His | |
| XM_006721922.1:c.5872T>C | XP_006721985.1:p.Tyr1958His | |
| XM_006721923.2:c.5833T>C | XP_006721986.1:p.Tyr1945His | |
| XM_006721924.1:c.5872T>C | XP_006721987.1:p.Tyr1958His | |
| XM_006721925.1:c.5809T>C | XP_006721988.1:p.Tyr1937His | |
| XM_006721926.2:c.5872T>C | XP_006721989.1:p.Tyr1958His | |
| XM_006721927.1:c.5872T>C | XP_006721990.1:p.Tyr1958His | |
| XM_011524852.1:c.5869T>C | XP_011523154.1:p.Tyr1957His | |
| XM_011524853.1:c.5833T>C | XP_011523155.1:p.Tyr1945His | |
| XM_011524854.1:c.5833T>C | XP_011523156.1:p.Tyr1945His | |
| XM_011524855.1:c.5833T>C | XP_011523157.1:p.Tyr1945His | |
| XM_011524856.1:c.5833T>C | XP_011523158.1:p.Tyr1945His | |
| XM_011524857.1:c.5872T>C | XP_011523159.1:p.Tyr1958His | |
| NM_001042492.3:c.5842T>C MANE Select | NP_001035957.1:p.Tyr1948His |