Linked Data
ClinVar Variation Id:
8403
ClinVar RCV Id:
RCV000008911
dbSNP Id:
rs121909343
ExAC:
2:74595997 A / G
gnomAD v2:
2-74595997-A-G
gnomAD v3:
2-74368870-A-G
gnomAD v4:
2-74368870-A-G
PubMed:
PMID:15326253
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.74368870A>G , CM000664.2:g.74368870A>G | GRCh38 |
| NC_000002.11:g.74595997A>G , CM000664.1:g.74595997A>G | GRCh37 |
| NC_000002.10:g.74449505A>G | NCBI36 |
| NG_008735.2:g.28218T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361874.8:c.1712T>C | ENSP00000354791.4:p.Met571Thr | |
| ENST00000628224.3:c.1712T>C MANE Select | ENSP00000487279.2:p.Met571Thr | |
| ENST00000680606.1:c.1661T>C | ENSP00000505612.1:p.Met554Thr | |
| ENST00000361874.7:c.1712T>C | ENSP00000354791.3:p.Met571Thr | |
| ENST00000394003.7:c.1691T>C | ENSP00000377571.3:p.Met564Thr | |
| ENST00000409240.5:c.1601T>C | ENSP00000386406.1:p.Met534Thr | |
| ENST00000409438.5:c.1310T>C | ENSP00000387270.1:p.Met437Thr | |
| ENST00000409567.7:c.1652T>C | ENSP00000386843.3:p.Met551Thr | |
| ENST00000409868.5:c.1661T>C | ENSP00000387327.1:p.Met554Thr | |
| ENST00000434055.5:c.1601T>C | ENSP00000416711.1:p.Met534Thr | |
| ENST00000466110.5:n.1933T>C | ||
| ENST00000497666.1:n.96+430T>C | ||
| ENST00000628224.2:c.1661T>C | ENSP00000487279.1:p.Met554Thr | |
| ENST00000633691.1:c.1310T>C | ENSP00000487724.1:p.Met437Thr | |
| NM_001135040.2:c.1652T>C | NP_001128512.1:p.Met551Thr | |
| NM_001135041.2:c.1310T>C | NP_001128513.1:p.Met437Thr | |
| NM_001190836.1:c.1601T>C | NP_001177765.1:p.Met534Thr | |
| NM_001190837.1:c.1691T>C | NP_001177766.1:p.Met564Thr | |
| NM_004082.4:c.1712T>C | NP_004073.2:p.Met571Thr | |
| NM_023019.3:c.1310T>C | NP_075408.1:p.Met437Thr | |
| NR_033935.1:n.1913T>C | ||
| NM_001135040.3:c.1652T>C | NP_001128512.1:p.Met551Thr | |
| NM_001135041.3:c.1310T>C | NP_001128513.1:p.Met437Thr | |
| NM_001190836.2:c.1601T>C | NP_001177765.1:p.Met534Thr | |
| NM_001190837.2:c.1691T>C | NP_001177766.1:p.Met564Thr | |
| NM_001378991.1:c.1661T>C | NP_001365920.1:p.Met554Thr | |
| NM_001378992.1:c.1643T>C | NP_001365921.1:p.Met548Thr | |
| NM_004082.5:c.1712T>C MANE Select | NP_004073.2:p.Met571Thr | |
| NM_023019.4:c.1310T>C | NP_075408.1:p.Met437Thr | |
| NR_033935.2:n.1692T>C |