Linked Data
ClinVar Variation Id:
595310
dbSNP Id:
rs147582834
ExAC:
2:44104782 T / C
gnomAD v2:
2-44104782-T-C
gnomAD v3:
2-43877643-T-C
gnomAD v4:
2-43877643-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43877643T>C , CM000664.2:g.43877643T>C | GRCh38 |
| NC_000002.11:g.44104782T>C , CM000664.1:g.44104782T>C | GRCh37 |
| NC_000002.10:g.43958286T>C | NCBI36 |
| NG_008884.1:g.43680T>C | |
| NG_008884.2:g.50702T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272286.4:c.1839T>C MANE Select | ENSP00000272286.2:p.Tyr613= | |
| ENST00000272286.2:c.1839T>C | ENSP00000272286.2:p.Tyr613= | |
| NM_022437.2:c.1839T>C | NP_071882.1:p.Tyr613= | |
| XM_005264483.2:c.1836T>C | XP_005264540.1:p.Tyr612= | |
| XM_011533029.1:c.1851T>C | XP_011531331.1:p.Tyr617= | |
| XM_011533030.1:c.1848T>C | XP_011531332.1:p.Tyr616= | |
| XM_011533031.1:c.1623T>C | XP_011531333.1:p.Tyr541= | |
| XR_939707.1:n.2341T>C | ||
| NM_001357321.1:c.1836T>C | NP_001344250.1:p.Tyr612= | |
| XM_011533029.2:c.1851T>C | XP_011531331.1:p.Tyr617= | |
| XM_011533030.2:c.1848T>C | XP_011531332.1:p.Tyr616= | |
| XR_001738891.1:n.2355T>C | ||
| XR_939707.2:n.2355T>C | ||
| NM_022437.3:c.1839T>C MANE Select | NP_071882.1:p.Tyr613= | |
| NM_001357321.2:c.1836T>C | NP_001344250.1:p.Tyr612= |