Linked Data
ClinVar Variation Id:
3013710
ClinVar RCV Id:
RCV003873285
dbSNP Id:
rs1042407397
gnomAD v3:
2-73534852-T-C
gnomAD v4:
2-73534852-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73534852T>C , CM000664.2:g.73534852T>C | GRCh38 |
| NC_000002.11:g.73761979T>C , CM000664.1:g.73761979T>C | GRCh37 |
| NC_000002.10:g.73615487T>C | NCBI36 |
| NG_011690.1:g.154100T>C , LRG_741:g.154100T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.9429T>C | ENSP00000507671.1:p.Pro3143= | |
| ENST00000682801.1:c.9429T>C | ENSP00000507862.1:p.Pro3143= | |
| ENST00000682859.1:c.9429T>C | ENSP00000508222.1:p.Pro3143= | |
| ENST00000683791.1:c.2821T>C | ||
| ENST00000684460.1:c.6881T>C | ||
| ENST00000684548.1:c.9429T>C | ENSP00000507421.1:p.Pro3143= | |
| ENST00000684590.1:c.3876T>C | ENSP00000507376.1:p.Pro1292= | |
| ENST00000684656.1:c.6852+14836T>C | ||
| ENST00000613296.6:c.9810T>C MANE Select | ENSP00000482968.1:p.Pro3270= | |
| ENST00000651057.1:c.61+14836T>C | ENSP00000498504.1:n.61+14836T>C | |
| ENST00000651434.1:c.1166T>C | ||
| ENST00000652487.1:c.907T>C | ||
| ENST00000423048.5:c.3301T>C | ENSP00000399833.1:n.3301T>C | |
| ENST00000476650.2:n.101T>C | ||
| ENST00000484298.5:c.9684T>C | ENSP00000478155.1:p.Pro3228= | |
| ENST00000613296.4:c.9810T>C | ENSP00000482968.1:p.Pro3270= | |
| ENST00000614410.4:c.9810T>C | ENSP00000479094.1:p.Pro3270= | |
| ENST00000620466.4:n.3613T>C | ||
| NM_015120.4:c.9813T>C , LRG_741t1:c.9813T>C | NP_055935.4:p.Pro3271= | |
| NM_001378454.1:c.9810T>C MANE Select | NP_001365383.1:p.Pro3270= |