Linked Data
ClinVar Variation Id:
308887
dbSNP Id:
rs2228570
ExAC:
12:48272895 A / G
gnomAD v2:
12-48272895-A-G
gnomAD v3:
12-47879112-A-G
gnomAD v4:
12-47879112-A-G
PubMed:
PMID:9169350
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.47879112A>G , CM000674.2:g.47879112A>G | GRCh38 |
| NC_000012.11:g.48272895A>G , CM000674.1:g.48272895A>G | GRCh37 |
| NC_000012.10:g.46559162A>G | NCBI36 |
| NG_008731.1:g.30920T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000229022.9:c.2T>C | ENSP00000229022.5:p.Met1Thr | |
| ENST00000549336.6:c.2T>C MANE Select | ENSP00000449573.2:p.Met1Thr | |
| ENST00000229022.7:c.2T>C | ENSP00000229022.3:p.Met1Thr | |
| ENST00000395324.6:c.2T>C | ENSP00000378734.2:p.Met1Thr | |
| ENST00000546653.5:c.2T>C | ENSP00000448659.1:p.Met1Thr | |
| ENST00000547065.1:c.2T>C | ENSP00000449074.1:p.Met1Thr | |
| ENST00000548664.1:c.2T>C | ENSP00000450105.1:p.Met1Thr | |
| ENST00000549336.5:c.2T>C | ENSP00000449573.1:p.Met1Thr | |
| ENST00000550314.5:c.2T>C | ENSP00000449561.1:p.Met1Thr | |
| ENST00000550325.5:c.152T>C | ENSP00000447173.1:p.Met51Thr | |
| NM_000376.2:c.2T>C | NP_000367.1:p.Met1Thr | |
| NM_001017535.1:c.2T>C | NP_001017535.1:p.Met1Thr | |
| NM_001017536.1:c.152T>C | NP_001017536.1:p.Met51Thr | |
| XM_006719587.2:c.2T>C | XP_006719650.1:p.Met1Thr | |
| XM_011538720.1:c.2T>C | XP_011537022.1:p.Met1Thr | |
| NM_001364085.1:c.2T>C | NP_001351014.1:p.Met1Thr | |
| XM_006719587.3:c.2T>C | XP_006719650.1:p.Met1Thr | |
| XM_011538720.2:c.2T>C | XP_011537022.1:p.Met1Thr | |
| XM_024449178.1:c.71T>C | XP_024304946.1:p.Met24Thr | |
| NM_000376.3:c.2T>C MANE Select | NP_000367.1:p.Met1Thr | |
| NM_001017535.2:c.2T>C | NP_001017535.1:p.Met1Thr | |
| NM_001017536.2:c.152T>C | NP_001017536.1:p.Met51Thr | |
| NM_001364085.2:c.2T>C | NP_001351014.1:p.Met1Thr | |
| NM_001374661.1:c.2T>C | NP_001361590.1:p.Met1Thr | |
| NM_001374662.1:c.2T>C | NP_001361591.1:p.Met1Thr |