Linked Data
ClinVar Variation Id:
2565407
ClinVar RCV Id:
RCV003301862
dbSNP Id:
rs746541178
gnomAD v4:
2-43875357-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43875357A>C , CM000664.2:g.43875357A>C | GRCh38 |
| NC_000002.11:g.44102496A>C , CM000664.1:g.44102496A>C | GRCh37 |
| NC_000002.10:g.43956000A>C | NCBI36 |
| NG_008884.1:g.41394A>C | |
| NG_008884.2:g.48416A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272286.4:c.1700A>C MANE Select | ENSP00000272286.2:p.Tyr567Ser | |
| ENST00000272286.2:c.1700A>C | ENSP00000272286.2:p.Tyr567Ser | |
| NM_022437.2:c.1700A>C | NP_071882.1:p.Tyr567Ser | |
| XM_005264483.2:c.1697A>C | XP_005264540.1:p.Tyr566Ser | |
| XM_011533029.1:c.1712A>C | XP_011531331.1:p.Tyr571Ser | |
| XM_011533030.1:c.1709A>C | XP_011531332.1:p.Tyr570Ser | |
| XM_011533031.1:c.1484A>C | XP_011531333.1:p.Tyr495Ser | |
| XR_939707.1:n.2202A>C | ||
| NM_001357321.1:c.1697A>C | NP_001344250.1:p.Tyr566Ser | |
| XM_011533029.2:c.1712A>C | XP_011531331.1:p.Tyr571Ser | |
| XM_011533030.2:c.1709A>C | XP_011531332.1:p.Tyr570Ser | |
| XR_001738891.1:n.2216A>C | ||
| XR_939707.2:n.2216A>C | ||
| NM_022437.3:c.1700A>C MANE Select | NP_071882.1:p.Tyr567Ser | |
| NM_001357321.2:c.1697A>C | NP_001344250.1:p.Tyr566Ser |