Linked Data
dbSNP Id:
rs769649220
ExAC:
5:134367067 A / G
gnomAD v2:
5-134367067-A-G
gnomAD v4:
5-135031377-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135031377A>G , CM000667.2:g.135031377A>G | GRCh38 |
| NC_000005.9:g.134367067A>G , CM000667.1:g.134367067A>G | GRCh37 |
| NC_000005.8:g.134394966A>G | NCBI36 |
| NG_012114.1:g.7898T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265340.12:c.301T>C MANE Select | ENSP00000265340.6:p.Leu101= | |
| ENST00000265340.11:c.301T>C | ENSP00000265340.6:p.Leu101= | |
| ENST00000502676.1:c.301T>C | ENSP00000423624.1:p.Leu101= | |
| ENST00000503586.1:c.423T>C | ||
| ENST00000504936.1:n.634T>C | ||
| ENST00000506438.5:c.301T>C | ENSP00000427542.1:p.Leu101= | |
| ENST00000507253.5:c.301T>C | ENSP00000422908.1:p.Leu101= | |
| NM_002653.4:c.301T>C | NP_002644.4:p.Leu101= | |
| NM_002653.5:c.301T>C MANE Select | NP_002644.4:p.Leu101= |