Linked Data
ClinVar Variation Id:
392472
ClinVar RCV Id:
RCV000432032
dbSNP Id:
rs1057524504
gnomAD v4:
17-47941678-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.47941678G>T , CM000679.2:g.47941678G>T | GRCh38 |
| NC_000017.10:g.46019044G>T , CM000679.1:g.46019044G>T | GRCh37 |
| NC_000017.9:g.43374043G>T | NCBI36 |
| NG_008744.1:g.5156G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000225573.5:c.3G>T | ENSP00000225573.5:p.Met1Ile | |
| ENST00000434554.7:c.3G>T | ENSP00000399960.3:p.Met1Ile | |
| ENST00000582171.6:c.3G>T | ENSP00000463994.1:p.Met1Ile | |
| ENST00000583599.6:c.-103+76G>T | ENSP00000463919.2:n.-103+76G>T | |
| ENST00000641305.1:n.78G>T | ||
| ENST00000641323.1:c.3G>T | ENSP00000492965.1:p.Met1Ile | |
| ENST00000641709.1:c.3G>T | ENSP00000493349.1:p.Met1Ile | |
| ENST00000641856.1:c.3G>T | ENSP00000493224.1:p.Met1Ile | |
| ENST00000642017.2:c.3G>T MANE Select | ENSP00000493302.2:p.Met1Ile | |
| ENST00000225573.4:c.3G>T | ENSP00000225573.4:p.Met1Ile | |
| ENST00000434554.6:c.3G>T | ENSP00000399960.2:p.Met1Ile | |
| ENST00000582171.5:c.3G>T | ENSP00000463994.1:p.Met1Ile | |
| ENST00000583245.5:c.3G>T | ENSP00000463520.1:p.Met1Ile | |
| ENST00000583599.5:c.-103+76G>T | ENSP00000463919.1:n.-103+76G>T | |
| ENST00000584061.5:c.3G>T | ENSP00000463972.1:p.Met1Ile | |
| ENST00000585320.5:c.3G>T | ENSP00000462345.1:p.Met1Ile | |
| NM_018129.3:c.3G>T | NP_060599.1:p.Met1Ile | |
| XM_005257500.2:c.-476G>T | XP_005257557.1:n.-476G>T | |
| XM_011524968.1:c.-158G>T | XP_011523270.1:n.-158G>T | |
| XM_005257500.3:c.-476G>T | XP_005257557.1:n.-476G>T | |
| XM_011524968.2:c.-158G>T | XP_011523270.1:n.-158G>T | |
| XM_017024813.1:c.-103+76G>T | XP_016880302.1:n.-103+76G>T | |
| NM_018129.4:c.3G>T MANE Select | NP_060599.1:p.Met1Ile |