Linked Data
ClinVar Variation Id:
1151390
ClinVar RCV Id:
RCV001492314
dbSNP Id:
rs746548293
ExAC:
6:129786388 T / C
gnomAD v2:
6-129786388-T-C
gnomAD v3:
6-129465243-T-C
gnomAD v4:
6-129465243-T-C
COSMIC:
COSM1754481
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.129465243T>C , CM000668.2:g.129465243T>C | GRCh38 |
| NC_000006.11:g.129786388T>C , CM000668.1:g.129786388T>C | GRCh37 |
| NC_000006.10:g.129828081T>C | NCBI36 |
| NG_008678.1:g.587103T>C , LRG_409:g.587103T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617695.5:c.7254T>C | ENSP00000481744.2:p.Asn2418= | |
| ENST00000618192.5:c.7518T>C | ENSP00000480802.2:p.Asn2506= | |
| ENST00000684985.1:n.885T>C | ||
| ENST00000421865.3:c.7254T>C MANE Select | ENSP00000400365.2:p.Asn2418= | |
| ENST00000421865.2:c.7254T>C | ENSP00000400365.2:p.Asn2418= | |
| ENST00000617695.4:c.7254T>C | ENSP00000481744.1:p.Asn2418= | |
| ENST00000618192.4:c.7251T>C | ENSP00000480802.1:p.Asn2417= | |
| NM_000426.3:c.7254T>C , LRG_409t1:c.7254T>C | NP_000417.2:p.Asn2418= | |
| NM_001079823.1:c.7254T>C | NP_001073291.1:p.Asn2418= | |
| XM_005266981.2:c.7518T>C | XP_005267038.1:p.Asn2506= | |
| XM_005266982.2:c.7518T>C | XP_005267039.1:p.Asn2506= | |
| XM_011535820.1:c.7512T>C | XP_011534122.1:p.Asn2504= | |
| XM_005266981.3:c.7518T>C | XP_005267038.1:p.Asn2506= | |
| XM_005266982.3:c.7518T>C | XP_005267039.1:p.Asn2506= | |
| XM_011535820.2:c.7512T>C | XP_011534122.1:p.Asn2504= | |
| XM_017010851.2:c.7524T>C | XP_016866340.1:p.Asn2508= | |
| XM_017010852.1:c.5649T>C | XP_016866341.1:p.Asn1883= | |
| NM_000426.4:c.7254T>C MANE Select | NP_000417.3:p.Asn2418= | |
| NM_001079823.2:c.7254T>C | NP_001073291.2:p.Asn2418= |