Linked Data
ClinVar Variation Id:
265843
ClinVar RCV Id:
RCV000256222
dbSNP Id:
rs886039789
gnomAD v2:
5-43615953-C-T
gnomAD v4:
5-43615851-C-T
PubMed:
PMID:27129361
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.43615851C>T , CM000667.2:g.43615851C>T | GRCh38 |
| NC_000005.9:g.43615953C>T , CM000667.1:g.43615953C>T | GRCh37 |
| NC_000005.8:g.43651710C>T | NCBI36 |
| NG_032869.1:g.18163C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344920.9:c.385C>T MANE Select | ENSP00000343873.4:p.Arg129Ter | |
| ENST00000652986.1:c.385C>T | ENSP00000499801.1:p.Arg129Ter | |
| ENST00000653251.1:c.385C>T | ENSP00000499281.1:p.Arg129Ter | |
| ENST00000654405.1:c.385C>T | ENSP00000499670.1:p.Arg129Ter | |
| ENST00000654931.1:c.*247C>T | ENSP00000499477.1:n.*247C>T | |
| ENST00000656666.1:c.385C>T | ENSP00000499249.1:p.Arg129Ter | |
| ENST00000657172.1:c.-9C>T | ENSP00000499431.1:n.-9C>T | |
| ENST00000657973.1:c.155C>T | ENSP00000499581.1:p.Ala52Val | |
| ENST00000658729.1:c.385C>T | ENSP00000499331.1:p.Arg129Ter | |
| ENST00000660676.1:c.385C>T | ENSP00000499491.1:p.Arg129Ter | |
| ENST00000660752.1:c.385C>T | ENSP00000499701.1:p.Arg129Ter | |
| ENST00000662525.1:c.385C>T | ENSP00000499639.1:p.Arg129Ter | |
| ENST00000669601.1:c.385C>T | ENSP00000499527.1:p.Arg129Ter | |
| ENST00000670904.1:c.385C>T | ENSP00000499611.1:p.Arg129Ter | |
| ENST00000671668.1:c.385C>T | ENSP00000499494.1:p.Arg129Ter | |
| ENST00000264663.9:c.385C>T | ENSP00000264663.5:p.Arg129Ter | |
| ENST00000344920.8:c.385C>T | ENSP00000343873.4:p.Arg129Ter | |
| ENST00000505678.6:c.385C>T | ENSP00000427670.1:p.Arg129Ter | |
| ENST00000512422.5:c.385C>T | ENSP00000421886.1:p.Arg129Ter | |
| ENST00000512996.6:c.-9C>T | ENSP00000426343.1:n.-9C>T | |
| ENST00000515208.1:c.-9C>T | ENSP00000425542.1:n.-9C>T | |
| NM_012343.3:c.385C>T | NP_036475.3:p.Arg129Ter | |
| NM_182977.2:c.385C>T | NP_892022.2:p.Arg129Ter | |
| XM_005248274.3:c.385C>T | XP_005248331.1:p.Arg129Ter | |
| XM_006714461.2:c.-9C>T | XP_006714524.1:n.-9C>T | |
| XM_011514001.1:c.385C>T | XP_011512303.1:p.Arg129Ter | |
| XM_011514002.1:c.-9C>T | XP_011512304.1:n.-9C>T | |
| NM_001331026.1:c.-9C>T | NP_001317955.1:n.-9C>T | |
| XM_005248274.5:c.385C>T | XP_005248331.1:p.Arg129Ter | |
| XM_006714461.4:c.-9C>T | XP_006714524.1:n.-9C>T | |
| XM_011514001.3:c.385C>T | XP_011512303.1:p.Arg129Ter | |
| XM_017009293.2:c.385C>T | XP_016864782.1:p.Arg129Ter | |
| XM_024446009.1:c.-2339C>T | XP_024301777.1:n.-2339C>T | |
| NM_182977.3:c.385C>T MANE Select | NP_892022.2:p.Arg129Ter | |
| NM_001331026.2:c.-9C>T | NP_001317955.1:n.-9C>T | |
| NM_012343.4:c.385C>T | NP_036475.3:p.Arg129Ter |