Linked Data
ClinVar Variation Id:
167377
ClinVar RCV Id:
RCV000153590
RCV000195676
RCV000338020
RCV000372811
RCV000515315
RCV001094558
RCV001535425
dbSNP Id:
rs140446520
ExAC:
2:110936097 A / G
gnomAD v2:
2-110936097-A-G
gnomAD v3:
2-110178520-A-G
gnomAD v4:
2-110178520-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.110178520A>G , CM000664.2:g.110178520A>G | GRCh38 |
| NC_000002.11:g.110936097A>G , CM000664.1:g.110936097A>G | GRCh37 |
| NC_000002.10:g.110293386A>G | NCBI36 |
| NG_008287.1:g.31543T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000445609.7:c.232T>C MANE Select | ENSP00000389879.3:p.Tyr78His | |
| ENST00000674677.1:c.163T>C | ENSP00000502265.1:p.Tyr55His | |
| ENST00000675067.1:c.-2122T>C | ENSP00000502817.1:n.-2122T>C | |
| ENST00000675356.1:n.271T>C | ||
| ENST00000675752.1:n.265T>C | ||
| ENST00000676028.1:c.232T>C | ENSP00000502639.1:p.Tyr78His | |
| ENST00000676053.1:c.144-8522T>C | ENSP00000502475.1:n.144-8522T>C | |
| ENST00000676165.1:n.271T>C | ||
| ENST00000676258.1:n.1323T>C | ||
| ENST00000316534.8:c.232T>C | ENSP00000313169.4:p.Tyr78His | |
| ENST00000355301.8:c.144-8522T>C | ENSP00000347452.4:n.144-8522T>C | |
| ENST00000393272.7:c.232T>C | ENSP00000376953.3:p.Tyr78His | |
| ENST00000417665.5:c.232T>C | ENSP00000402176.1:p.Tyr78His | |
| ENST00000418527.1:c.232T>C | ENSP00000412351.1:p.Tyr78His | |
| ENST00000445609.6:c.232T>C | ENSP00000389879.2:p.Tyr78His | |
| ENST00000461707.5:n.265T>C | ||
| ENST00000496524.5:n.281T>C | ||
| NM_000272.3:c.232T>C | NP_000263.2:p.Tyr78His | |
| NM_001128178.1:c.232T>C | NP_001121650.1:p.Tyr78His | |
| NM_001128179.1:c.144-8522T>C | NP_001121651.1:n.144-8522T>C | |
| NM_207181.2:c.232T>C | NP_997064.2:p.Tyr78His | |
| XM_005263675.1:c.232T>C | XP_005263732.1:p.Tyr78His | |
| XM_005263676.1:c.232T>C | XP_005263733.1:p.Tyr78His | |
| XM_005263677.1:c.232T>C | XP_005263734.1:p.Tyr78His | |
| XM_005263678.2:c.232T>C | XP_005263735.1:p.Tyr78His | |
| XM_005263679.1:c.232T>C | XP_005263736.1:p.Tyr78His | |
| XM_006712551.1:c.232T>C | XP_006712614.1:p.Tyr78His | |
| XM_006712552.2:c.232T>C | XP_006712615.1:p.Tyr78His | |
| XM_011511244.1:c.232T>C | XP_011509546.1:p.Tyr78His | |
| XM_017004218.1:c.232T>C | XP_016859707.1:p.Tyr78His | |
| NM_000272.4:c.232T>C | NP_000263.2:p.Tyr78His | |
| NM_001128178.3:c.232T>C MANE Select | NP_001121650.1:p.Tyr78His | |
| NM_001128179.2:c.144-8522T>C | NP_001121651.1:n.144-8522T>C | |
| NM_001374256.1:c.232T>C | NP_001361185.1:p.Tyr78His | |
| NM_001374257.1:c.232T>C | NP_001361186.1:p.Tyr78His | |
| NM_207181.3:c.232T>C | NP_997064.2:p.Tyr78His | |
| NM_000272.5:c.232T>C | NP_000263.2:p.Tyr78His | |
| NM_001128179.3:c.144-8522T>C | NP_001121651.1:n.144-8522T>C | |
| NM_207181.4:c.232T>C | NP_997064.2:p.Tyr78His |