Linked Data
dbSNP Id:
rs765738598
ExAC:
2:44104776 A / C
gnomAD v2:
2-44104776-A-C
gnomAD v4:
2-43877637-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43877637A>C , CM000664.2:g.43877637A>C | GRCh38 |
| NC_000002.11:g.44104776A>C , CM000664.1:g.44104776A>C | GRCh37 |
| NC_000002.10:g.43958280A>C | NCBI36 |
| NG_008884.1:g.43674A>C | |
| NG_008884.2:g.50696A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272286.4:c.1833A>C MANE Select | ENSP00000272286.2:p.Arg611Ser | |
| ENST00000272286.2:c.1833A>C | ENSP00000272286.2:p.Arg611Ser | |
| NM_022437.2:c.1833A>C | NP_071882.1:p.Arg611Ser | |
| XM_005264483.2:c.1830A>C | XP_005264540.1:p.Arg610Ser | |
| XM_011533029.1:c.1845A>C | XP_011531331.1:p.Arg615Ser | |
| XM_011533030.1:c.1842A>C | XP_011531332.1:p.Arg614Ser | |
| XM_011533031.1:c.1617A>C | XP_011531333.1:p.Arg539Ser | |
| XR_939707.1:n.2335A>C | ||
| NM_001357321.1:c.1830A>C | NP_001344250.1:p.Arg610Ser | |
| XM_011533029.2:c.1845A>C | XP_011531331.1:p.Arg615Ser | |
| XM_011533030.2:c.1842A>C | XP_011531332.1:p.Arg614Ser | |
| XR_001738891.1:n.2349A>C | ||
| XR_939707.2:n.2349A>C | ||
| NM_022437.3:c.1833A>C MANE Select | NP_071882.1:p.Arg611Ser | |
| NM_001357321.2:c.1830A>C | NP_001344250.1:p.Arg610Ser |