Linked Data
ClinVar Variation Id:
193371
ClinVar RCV Id:
RCV000536292
RCV000724177
RCV000987931
RCV001163311
RCV001272105
RCV001331839
RCV002470789
RCV003155104
dbSNP Id:
rs541276426
ExAC:
7:95951267 A / G
gnomAD v2:
7-95951267-A-G
gnomAD v3:
7-96321955-A-G
gnomAD v4:
7-96321955-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.96321955A>G , CM000669.2:g.96321955A>G | GRCh38 |
| NC_000007.13:g.95951267A>G , CM000669.1:g.95951267A>G | GRCh37 |
| NC_000007.12:g.95789203A>G | NCBI36 |
| NG_012247.1:g.5193T>C | |
| NG_012247.2:g.5193T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265631.10:c.2T>C MANE Select | ENSP00000265631.6:p.Met1Thr | |
| ENST00000265631.9:c.2T>C | ENSP00000265631.5:p.Met1Thr | |
| ENST00000416240.6:c.2T>C | ENSP00000400101.2:p.Met1Thr | |
| ENST00000472162.2:c.2T>C | ENSP00000473505.1:p.Met1Thr | |
| NM_001160210.1:c.2T>C | NP_001153682.1:p.Met1Thr | |
| NM_014251.2:c.2T>C | NP_055066.1:p.Met1Thr | |
| NR_027662.1:n.193T>C | ||
| XM_011515727.3:c.-120T>C | XP_011514029.1:n.-120T>C | |
| XM_017011664.2:c.-757T>C | XP_016867153.1:n.-757T>C | |
| XM_017011665.1:c.-641T>C | XP_016867154.1:n.-641T>C | |
| XR_001744525.2:n.173T>C | ||
| XR_002956405.1:n.161T>C | ||
| NM_014251.3:c.2T>C MANE Select | NP_055066.1:p.Met1Thr | |
| NR_027662.2:n.144T>C | ||
| NM_001160210.2:c.2T>C | NP_001153682.1:p.Met1Thr |