Linked Data
ClinVar Variation Id:
1933375
ClinVar RCV Id:
RCV002649652
dbSNP Id:
rs1281309697
gnomAD v4:
4-46312582-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.46312582A>G , CM000666.2:g.46312582A>G | GRCh38 |
| NC_000004.11:g.46314599A>G , CM000666.1:g.46314599A>G | GRCh37 |
| NC_000004.10:g.46009356A>G | NCBI36 |
| NG_012835.1:g.82458T>C | |
| NG_012835.2:g.82458T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000381620.9:c.390T>C MANE Select | ENSP00000371033.4:p.Asn130= | |
| ENST00000356504.5:c.390T>C | ENSP00000348897.1:p.Asn130= | |
| ENST00000381620.8:c.390T>C | ENSP00000371033.4:p.Asn130= | |
| ENST00000503806.5:c.390T>C | ENSP00000424362.1:p.Asn130= | |
| ENST00000506961.5:c.390T>C | ENSP00000424093.1:p.Asn130= | |
| ENST00000507069.5:c.390T>C | ENSP00000427603.1:p.Asn130= | |
| ENST00000510233.5:c.390T>C | ENSP00000422642.1:p.Asn130= | |
| ENST00000510861.5:c.390T>C | ENSP00000421828.1:p.Asn130= | |
| ENST00000513005.5:c.*121T>C | ENSP00000421639.1:n.*121T>C | |
| ENST00000514090.5:c.390T>C | ENSP00000421300.1:p.Asn130= | |
| ENST00000514193.5:c.*121T>C | ENSP00000425526.1:n.*121T>C | |
| ENST00000515082.5:c.390T>C | ENSP00000423840.1:p.Asn130= | |
| ENST00000540012.5:c.138T>C | ENSP00000444409.2:p.Asn46= | |
| ENST00000630416.2:c.*121T>C | ENSP00000486333.1:n.*121T>C | |
| NM_000807.2:c.390T>C | NP_000798.2:p.Asn130= | |
| NM_001114175.1:c.390T>C | NP_001107647.1:p.Asn130= | |
| NM_001286827.1:c.225T>C | NP_001273756.1:p.Asn75= | |
| XM_005248080.2:c.225T>C | XP_005248137.1:p.Asn75= | |
| XM_011513675.1:c.390T>C | XP_011511977.1:p.Asn130= | |
| XM_011513676.1:c.390T>C | XP_011511978.1:p.Asn130= | |
| NM_000807.3:c.390T>C | NP_000798.2:p.Asn130= | |
| NM_001114175.2:c.390T>C | NP_001107647.1:p.Asn130= | |
| NM_001286827.2:c.225T>C | NP_001273756.1:p.Asn75= | |
| NM_001330690.1:c.390T>C | NP_001317619.1:p.Asn130= | |
| XM_017007982.2:c.390T>C | XP_016863471.1:p.Asn130= | |
| XM_017007983.2:c.390T>C | XP_016863472.1:p.Asn130= | |
| XM_024453963.1:c.390T>C | XP_024309731.1:p.Asn130= | |
| XM_024453964.1:c.390T>C | XP_024309732.1:p.Asn130= | |
| XM_024453965.1:c.390T>C | XP_024309733.1:p.Asn130= | |
| XM_024453966.1:c.390T>C | XP_024309734.1:p.Asn130= | |
| XM_024453967.1:c.390T>C | XP_024309735.1:p.Asn130= | |
| XM_024453968.1:c.390T>C | XP_024309736.1:p.Asn130= | |
| XM_024453969.1:c.390T>C | XP_024309737.1:p.Asn130= | |
| XM_024453970.1:c.390T>C | XP_024309738.1:p.Asn130= | |
| XM_024453971.1:c.390T>C | XP_024309739.1:p.Asn130= | |
| XM_024453972.1:c.225T>C | XP_024309740.1:p.Asn75= | |
| XM_024453973.1:c.225T>C | XP_024309741.1:p.Asn75= | |
| XM_024453974.1:c.225T>C | XP_024309742.1:p.Asn75= | |
| NM_000807.4:c.390T>C MANE Select | NP_000798.2:p.Asn130= | |
| NM_001114175.3:c.390T>C | NP_001107647.1:p.Asn130= | |
| NM_001286827.3:c.225T>C | NP_001273756.1:p.Asn75= | |
| NM_001330690.2:c.390T>C | NP_001317619.1:p.Asn130= | |
| NM_001377144.1:c.390T>C | NP_001364073.1:p.Asn130= | |
| NM_001377145.1:c.390T>C | NP_001364074.1:p.Asn130= | |
| NM_001377146.1:c.390T>C | NP_001364075.1:p.Asn130= | |
| NM_001377147.1:c.390T>C | NP_001364076.1:p.Asn130= | |
| NM_001377148.1:c.390T>C | NP_001364077.1:p.Asn130= | |
| NM_001377149.1:c.390T>C | NP_001364078.1:p.Asn130= | |
| NM_001377150.1:c.390T>C | NP_001364079.1:p.Asn130= | |
| NM_001377151.1:c.390T>C | NP_001364080.1:p.Asn130= | |
| NM_001377152.1:c.225T>C | NP_001364081.1:p.Asn75= | |
| NM_001377153.1:c.225T>C | NP_001364082.1:p.Asn75= | |
| NM_001377154.1:c.225T>C | NP_001364083.1:p.Asn75= | |
| NM_001377155.1:c.390T>C | NP_001364084.1:p.Asn130= |