Linked Data
ClinVar Variation Id:
336088
dbSNP Id:
rs767847167
ExAC:
2:44102532 A / T
gnomAD v2:
2-44102532-A-T
gnomAD v3:
2-43875393-A-T
gnomAD v4:
2-43875393-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43875393A>T , CM000664.2:g.43875393A>T | GRCh38 |
| NC_000002.11:g.44102532A>T , CM000664.1:g.44102532A>T | GRCh37 |
| NC_000002.10:g.43956036A>T | NCBI36 |
| NG_008884.1:g.41430A>T | |
| NG_008884.2:g.48452A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272286.4:c.1736A>T MANE Select | ENSP00000272286.2:p.Asn579Ile | |
| ENST00000272286.2:c.1736A>T | ENSP00000272286.2:p.Asn579Ile | |
| NM_022437.2:c.1736A>T | NP_071882.1:p.Asn579Ile | |
| XM_005264483.2:c.1733A>T | XP_005264540.1:p.Asn578Ile | |
| XM_011533029.1:c.1748A>T | XP_011531331.1:p.Asn583Ile | |
| XM_011533030.1:c.1745A>T | XP_011531332.1:p.Asn582Ile | |
| XM_011533031.1:c.1520A>T | XP_011531333.1:p.Asn507Ile | |
| XR_939707.1:n.2238A>T | ||
| NM_001357321.1:c.1733A>T | NP_001344250.1:p.Asn578Ile | |
| XM_011533029.2:c.1748A>T | XP_011531331.1:p.Asn583Ile | |
| XM_011533030.2:c.1745A>T | XP_011531332.1:p.Asn582Ile | |
| XR_001738891.1:n.2252A>T | ||
| XR_939707.2:n.2252A>T | ||
| NM_022437.3:c.1736A>T MANE Select | NP_071882.1:p.Asn579Ile | |
| NM_001357321.2:c.1733A>T | NP_001344250.1:p.Asn578Ile |