Linked Data
ClinVar Variation Id:
375334
ClinVar RCV Id:
RCV000416411
dbSNP Id:
rs1057519345
gnomAD v3:
19-40714532-C-T
gnomAD v4:
19-40714532-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40714532C>T , CM000681.2:g.40714532C>T | GRCh38 |
| NC_000019.9:g.41220437C>T , CM000681.1:g.41220437C>T | GRCh37 |
| NC_000019.8:g.45912277C>T | NCBI36 |
| NG_012970.1:g.2430C>T | |
| NG_027800.1:g.7354G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000324464.8:c.101G>A MANE Select | ENSP00000315118.3:p.Trp34Ter | |
| ENST00000593724.2:n.193G>A | ||
| ENST00000594490.6:c.101G>A | ENSP00000471310.2:p.Trp34Ter | |
| ENST00000594720.6:c.101G>A | ENSP00000470876.2:p.Trp34Ter | |
| ENST00000596455.6:n.250G>A | ||
| ENST00000601967.6:c.101G>A | ENSP00000470916.2:p.Trp34Ter | |
| ENST00000676555.1:c.101G>A | ENSP00000503387.1:p.Trp34Ter | |
| ENST00000676578.1:c.101G>A | ENSP00000504076.1:p.Trp34Ter | |
| ENST00000676651.1:n.129G>A | ||
| ENST00000676960.1:n.85-135G>A | ||
| ENST00000676962.1:n.237G>A | ||
| ENST00000677018.1:c.101G>A | ENSP00000503480.1:p.Trp34Ter | |
| ENST00000677039.1:n.156G>A | ||
| ENST00000677399.1:n.400G>A | ||
| ENST00000677496.1:c.-158-135G>A | ENSP00000504773.1:n.-158-135G>A | |
| ENST00000677517.1:c.-158-135G>A | ENSP00000503519.1:n.-158-135G>A | |
| ENST00000677633.1:c.101G>A | ENSP00000503645.1:p.Trp34Ter | |
| ENST00000677800.1:c.101G>A | ENSP00000503794.1:p.Trp34Ter | |
| ENST00000678057.1:c.101G>A | ENSP00000503762.1:p.Trp34Ter | |
| ENST00000678119.1:n.152G>A | ||
| ENST00000678166.1:n.242G>A | ||
| ENST00000678312.1:n.297-135G>A | ||
| ENST00000678316.1:c.101G>A | ENSP00000504112.1:p.Trp34Ter | |
| ENST00000678371.1:n.316G>A | ||
| ENST00000678404.1:c.101G>A | ENSP00000503944.1:p.Trp34Ter | |
| ENST00000678419.1:c.101G>A | ENSP00000504085.1:p.Trp34Ter | |
| ENST00000678433.1:n.318G>A | ||
| ENST00000678467.1:c.101G>A | ENSP00000504072.1:p.Trp34Ter | |
| ENST00000678569.1:c.101G>A | ENSP00000504261.1:p.Trp34Ter | |
| ENST00000678961.1:n.141G>A | ||
| ENST00000679002.1:n.137G>A | ||
| ENST00000679012.1:c.-312G>A | ENSP00000504446.1:n.-312G>A | |
| ENST00000679070.1:c.-158-135G>A | ENSP00000503759.1:n.-158-135G>A | |
| ENST00000679130.1:c.101G>A | ENSP00000504845.1:p.Trp34Ter | |
| ENST00000679315.1:c.101G>A | ENSP00000503065.1:p.Trp34Ter | |
| ENST00000243583.10:c.101G>A | ENSP00000243583.5:p.Trp34Ter | |
| ENST00000324464.7:c.101G>A | ENSP00000315118.3:p.Trp34Ter | |
| ENST00000593544.1:n.51-135G>A | ||
| ENST00000594084.5:c.101G>A | ENSP00000473189.1:p.Trp34Ter | |
| ENST00000594490.5:c.101G>A | ENSP00000471310.1:p.Trp34Ter | |
| ENST00000594720.5:c.101G>A | ENSP00000470876.1:p.Trp34Ter | |
| ENST00000595254.5:c.-225-135G>A | ENSP00000470894.1:n.-225-135G>A | |
| ENST00000596357.1:c.101G>A | ENSP00000472925.1:p.Trp34Ter | |
| ENST00000596455.5:n.80-135G>A | ||
| ENST00000599643.5:c.101G>A | ENSP00000471192.1:p.Trp34Ter | |
| ENST00000600080.5:c.-225-135G>A | ENSP00000473017.1:n.-225-135G>A | |
| ENST00000600707.5:c.101G>A | ENSP00000472978.1:p.Trp34Ter | |
| ENST00000601304.5:c.101G>A | ENSP00000472519.1:p.Trp34Ter | |
| ENST00000601451.5:n.403G>A | ||
| ENST00000601967.5:c.101G>A | ENSP00000470916.1:p.Trp34Ter | |
| NM_001142555.2:c.101G>A | NP_001136027.1:p.Trp34Ter | |
| NM_024876.3:c.101G>A | NP_079152.3:p.Trp34Ter | |
| XM_005259270.3:c.263G>A | XP_005259327.2:p.Trp88Ter | |
| XM_005259271.3:c.101G>A | XP_005259328.1:p.Trp34Ter | |
| XM_005259272.3:c.101G>A | XP_005259329.1:p.Trp34Ter | |
| XM_005259273.3:c.101G>A | XP_005259330.1:p.Trp34Ter | |
| XM_006723392.2:c.101G>A | XP_006723455.1:p.Trp34Ter | |
| XM_006723393.2:c.101G>A | XP_006723456.1:p.Trp34Ter | |
| XM_011527334.1:c.101G>A | XP_011525636.1:p.Trp34Ter | |
| XM_011527335.1:c.101G>A | XP_011525637.1:p.Trp34Ter | |
| XM_011527336.1:c.133-135G>A | XP_011525638.1:n.133-135G>A | |
| XM_011527337.1:c.101G>A | XP_011525639.1:p.Trp34Ter | |
| XM_011527338.1:c.101G>A | XP_011525640.1:p.Trp34Ter | |
| NM_024876.4:c.101G>A MANE Select | NP_079152.3:p.Trp34Ter | |
| NM_001142555.3:c.101G>A | NP_001136027.1:p.Trp34Ter |