Linked Data
ClinVar Variation Id:
137172
ClinVar RCV Id:
RCV000124830
RCV000339026
RCV000391733
RCV000587701
RCV000620556
RCV000769242
RCV001086040
RCV000309573
RCV000348027
RCV003965046
RCV003997430
dbSNP Id:
rs28763970
ExAC:
6:7585229 C / T
gnomAD v2:
6-7585229-C-T
gnomAD v3:
6-7584996-C-T
gnomAD v4:
6-7584996-C-T
COSMIC:
COSM3875511
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.7584996C>T , CM000668.2:g.7584996C>T | GRCh38 |
| NC_000006.11:g.7585229C>T , CM000668.1:g.7585229C>T | GRCh37 |
| NC_000006.10:g.7530228C>T | NCBI36 |
| NG_008803.1:g.48360C>T , LRG_423:g.48360C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710359.1:c.6405C>T | ENSP00000518230.1:p.Ser2135= | |
| ENST00000379802.8:c.7734C>T MANE Select | ENSP00000369129.3:p.Ser2578= | |
| ENST00000379802.7:c.7734C>T | ENSP00000369129.3:p.Ser2578= | |
| ENST00000418664.2:c.5937C>T | ENSP00000396591.2:p.Ser1979= | |
| NM_001008844.1:c.5937C>T | NP_001008844.1:p.Ser1979= | |
| NM_004415.2:c.7734C>T , LRG_423t1:c.7734C>T | NP_004406.2:p.Ser2578= | |
| XM_011514323.1:c.6405C>T | XP_011512625.1:p.Ser2135= | |
| NM_001008844.2:c.5937C>T | NP_001008844.1:p.Ser1979= | |
| NM_001319034.1:c.6405C>T | NP_001305963.1:p.Ser2135= | |
| NM_004415.3:c.7734C>T | NP_004406.2:p.Ser2578= | |
| NM_004415.4:c.7734C>T MANE Select | NP_004406.2:p.Ser2578= | |
| NM_001008844.3:c.5937C>T | NP_001008844.1:p.Ser1979= | |
| NM_001319034.2:c.6405C>T | NP_001305963.1:p.Ser2135= |