Linked Data
ClinVar Variation Id:
379985
dbSNP Id:
rs291466
ExAC:
2:191184475 A / G
gnomAD v2:
2-191184475-A-G
gnomAD v3:
2-190319749-A-G
gnomAD v4:
2-190319749-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.190319749A>G , CM000664.2:g.190319749A>G | GRCh38 |
| NC_000002.11:g.191184475A>G , CM000664.1:g.191184475A>G | GRCh37 |
| NC_000002.10:g.190892720A>G | NCBI36 |
| NG_017062.1:g.5297T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000359678.10:c.2T>C MANE Select | ENSP00000352706.5:p.Met1Thr | |
| ENST00000359678.9:c.2T>C | ENSP00000352706.5:p.Met1Thr | |
| ENST00000392332.7:c.2T>C | ENSP00000376144.3:p.Met1Thr | |
| ENST00000409934.1:c.198-8953T>C | ENSP00000387247.1:n.198-8953T>C | |
| ENST00000622246.4:c.-14T>C | ENSP00000481055.1:n.-14T>C | |
| NM_014362.3:c.2T>C | NP_055177.2:p.Met1Thr | |
| NM_198047.2:c.2T>C | NP_932164.1:p.Met1Thr | |
| XM_011510953.1:c.2T>C | XP_011509255.1:p.Met1Thr | |
| XR_922903.1:n.246T>C | ||
| XM_011510953.2:c.2T>C | XP_011509255.1:p.Met1Thr | |
| XR_922903.2:n.65T>C | ||
| NM_014362.4:c.2T>C MANE Select | NP_055177.2:p.Met1Thr | |
| NM_198047.3:c.2T>C | NP_932164.1:p.Met1Thr |