Linked Data
ClinVar Variation Id:
3045656
ClinVar RCV Id:
RCV003951385
dbSNP Id:
rs200919814
gnomAD v2:
2-44102490-C-T
gnomAD v4:
2-43875351-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43875351C>T , CM000664.2:g.43875351C>T | GRCh38 |
| NC_000002.11:g.44102490C>T , CM000664.1:g.44102490C>T | GRCh37 |
| NC_000002.10:g.43955994C>T | NCBI36 |
| NG_008884.1:g.41388C>T | |
| NG_008884.2:g.48410C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272286.4:c.1694C>T MANE Select | ENSP00000272286.2:p.Ala565Val | |
| ENST00000272286.2:c.1694C>T | ENSP00000272286.2:p.Ala565Val | |
| NM_022437.2:c.1694C>T | NP_071882.1:p.Ala565Val | |
| XM_005264483.2:c.1691C>T | XP_005264540.1:p.Ala564Val | |
| XM_011533029.1:c.1706C>T | XP_011531331.1:p.Ala569Val | |
| XM_011533030.1:c.1703C>T | XP_011531332.1:p.Ala568Val | |
| XM_011533031.1:c.1478C>T | XP_011531333.1:p.Ala493Val | |
| XR_939707.1:n.2196C>T | ||
| NM_001357321.1:c.1691C>T | NP_001344250.1:p.Ala564Val | |
| XM_011533029.2:c.1706C>T | XP_011531331.1:p.Ala569Val | |
| XM_011533030.2:c.1703C>T | XP_011531332.1:p.Ala568Val | |
| XR_001738891.1:n.2210C>T | ||
| XR_939707.2:n.2210C>T | ||
| NM_022437.3:c.1694C>T MANE Select | NP_071882.1:p.Ala565Val | |
| NM_001357321.2:c.1691C>T | NP_001344250.1:p.Ala564Val |