Linked Data
ClinVar Variation Id:
197
ClinVar RCV Id:
RCV000000220
RCV000255378
RCV000409114
RCV000465185
RCV000624413
RCV000779066
RCV001787358
dbSNP Id:
rs201108965
ExAC:
11:61161437 G / T
gnomAD v2:
11-61161437-G-T
gnomAD v3:
11-61393965-G-T
gnomAD v4:
11-61393965-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61393965G>T , CM000673.2:g.61393965G>T | GRCh38 |
| NC_000011.9:g.61161437G>T , CM000673.1:g.61161437G>T | GRCh37 |
| NC_000011.8:g.60918013G>T | NCBI36 |
| NG_032976.1:g.6606G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334888.10:c.218G>T | ENSP00000334844.5:p.Arg73Leu | |
| ENST00000544795.6:n.495G>T | ||
| ENST00000684926.1:n.234G>T | ||
| ENST00000688959.1:c.-42G>T | ENSP00000509213.1:n.-42G>T | |
| ENST00000690736.1:c.218G>T | ENSP00000508542.1:p.Arg73Leu | |
| ENST00000515837.7:c.218G>T MANE Select | ENSP00000440638.1:p.Arg73Leu | |
| ENST00000334888.9:c.218G>T | ENSP00000334844.5:p.Arg73Leu | |
| ENST00000398979.7:c.35G>T | ENSP00000381950.3:p.Arg12Leu | |
| ENST00000515837.6:c.218G>T | ENSP00000440638.1:p.Arg73Leu | |
| ENST00000541473.1:n.232G>T | ||
| ENST00000544795.5:n.234G>T | ||
| NM_001173990.2:c.218G>T | NP_001167461.1:p.Arg73Leu | |
| NM_001173991.2:c.218G>T | NP_001167462.1:p.Arg73Leu | |
| NM_016499.5:c.35G>T | NP_057583.2:p.Arg12Leu | |
| XM_005274039.3:c.35G>T | XP_005274096.1:p.Arg12Leu | |
| NM_001330285.1:c.35G>T | NP_001317214.1:p.Arg12Leu | |
| XM_005274039.4:c.35G>T | XP_005274096.1:p.Arg12Leu | |
| NM_001173990.3:c.218G>T MANE Select | NP_001167461.1:p.Arg73Leu | |
| NM_001173991.3:c.218G>T | NP_001167462.1:p.Arg73Leu | |
| NM_001330285.2:c.35G>T | NP_001317214.1:p.Arg12Leu | |
| NM_016499.6:c.35G>T | NP_057583.2:p.Arg12Leu |