Linked Data
ClinVar Variation Id:
454555
dbSNP Id:
rs372017066
ExAC:
6:38997948 T / C
gnomAD v2:
6-38997948-T-C
gnomAD v3:
6-39030172-T-C
gnomAD v4:
6-39030172-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.39030172T>C , CM000668.2:g.39030172T>C | GRCh38 |
| NC_000006.11:g.38997948T>C , CM000668.1:g.38997948T>C | GRCh37 |
| NC_000006.10:g.39105926T>C | NCBI36 |
| NG_041805.1:g.319832T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327475.11:c.13904T>C MANE Select | ENSP00000333363.7:p.Met4635Thr | |
| ENST00000327475.10:c.13904T>C | ENSP00000333363.7:p.Met4635Thr | |
| ENST00000359357.7:c.13253T>C | ENSP00000352312.3:p.Met4418Thr | |
| NM_001206927.1:c.13904T>C | NP_001193856.1:p.Met4635Thr | |
| XM_011514318.1:c.13841T>C | XP_011512620.1:p.Met4614Thr | |
| XM_011514319.1:c.13796T>C | XP_011512621.1:p.Met4599Thr | |
| XM_011514320.1:c.13667T>C | XP_011512622.1:p.Met4556Thr | |
| XM_011514321.1:c.13253T>C | XP_011512623.1:p.Met4418Thr | |
| NM_001371.3:c.13253T>C | NP_001362.2:p.Met4418Thr | |
| XM_011514318.2:c.13841T>C | XP_011512620.1:p.Met4614Thr | |
| XM_011514319.2:c.13796T>C | XP_011512621.1:p.Met4599Thr | |
| XM_011514320.2:c.13667T>C | XP_011512622.1:p.Met4556Thr | |
| NM_001206927.2:c.13904T>C MANE Select | NP_001193856.1:p.Met4635Thr | |
| NM_001371.4:c.13253T>C | NP_001362.2:p.Met4418Thr |