Linked Data
ClinVar Variation Id:
660930
ClinVar RCV Id:
RCV000818232
dbSNP Id:
rs1357923280
gnomAD v2:
16-56385318-T-C
gnomAD v3:
16-56351406-T-C
gnomAD v4:
16-56351406-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56351406T>C , CM000678.2:g.56351406T>C | GRCh38 |
| NC_000016.9:g.56385318T>C , CM000678.1:g.56385318T>C | GRCh37 |
| NC_000016.8:g.54942819T>C | NCBI36 |
| NG_042800.1:g.165068T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262493.12:c.746T>C MANE Select | ENSP00000262493.6:p.Met249Thr | |
| ENST00000562316.6:c.413T>C | ENSP00000457238.2:p.Met138Thr | |
| ENST00000564727.2:c.50T>C | ENSP00000454971.2:p.Met17Thr | |
| ENST00000568375.2:c.116-3460T>C | ||
| ENST00000638185.1:n.961T>C | ||
| ENST00000638210.1:n.1046T>C | ||
| ENST00000638705.1:c.746T>C | ENSP00000491223.1:p.Met249Thr | |
| ENST00000638836.1:n.656T>C | ||
| ENST00000639055.1:n.1467T>C | ||
| ENST00000639251.1:n.647T>C | ||
| ENST00000639268.1:c.381T>C | ||
| ENST00000639341.1:c.271T>C | ||
| ENST00000639770.1:c.784T>C | ENSP00000491999.1:n.784T>C | |
| ENST00000640390.1:n.676T>C | ||
| ENST00000640469.1:c.110T>C | ENSP00000491875.1:p.Met37Thr | |
| ENST00000640560.1:n.522T>C | ||
| ENST00000640893.1:c.*144T>C | ENSP00000492677.1:n.*144T>C | |
| ENST00000262493.10:c.746T>C | ENSP00000262493.6:p.Met249Thr | |
| ENST00000568375.1:n.116-3460T>C | ||
| NM_020988.2:c.746T>C | NP_066268.1:p.Met249Thr | |
| XM_011523003.1:c.620T>C | XP_011521305.1:p.Met207Thr | |
| XM_011523003.3:c.620T>C | XP_011521305.1:p.Met207Thr | |
| NM_020988.3:c.746T>C MANE Select | NP_066268.1:p.Met249Thr |