Linked Data
ClinVar Variation Id:
161542
ClinVar RCV Id:
RCV000149077
dbSNP Id:
rs193921120
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96327946G>A , CM000664.2:g.96327946G>A | GRCh38 |
| NC_000002.11:g.96993684G>A , CM000664.1:g.96993684G>A | GRCh37 |
| NC_000002.10:g.96357411G>A | NCBI36 |
| NG_050731.1:g.7623G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000439118.3:c.1315G>A MANE Select | ENSP00000389308.2:p.Ala439Thr | |
| ENST00000361124.5:c.1339G>A | ENSP00000355121.4:p.Ala447Thr | |
| ENST00000420728.1:c.1410G>A | ||
| ENST00000439118.2:c.1315G>A | ENSP00000389308.2:p.Ala439Thr | |
| ENST00000536814.1:c.1291G>A | ENSP00000439566.1:p.Ala431Thr | |
| NM_001008949.2:c.1315G>A | NP_001008949.1:p.Ala439Thr | |
| NM_001163523.1:c.1291G>A | NP_001156995.1:p.Ala431Thr | |
| NM_001163524.1:c.1291G>A | NP_001156996.1:p.Ala431Thr | |
| NM_178495.5:c.1339G>A | NP_848590.3:p.Ala447Thr | |
| XM_011510696.1:c.1348G>A | XP_011508998.1:p.Ala450Thr | |
| NM_001324490.1:c.1291G>A | NP_001311419.1:p.Ala431Thr | |
| XM_017003427.1:c.1315G>A | XP_016858916.1:p.Ala439Thr | |
| NM_178495.6:c.1339G>A | NP_848590.3:p.Ala447Thr | |
| NM_001008949.3:c.1315G>A MANE Select | NP_001008949.1:p.Ala439Thr | |
| NM_001163523.2:c.1291G>A | NP_001156995.1:p.Ala431Thr |