Linked Data
dbSNP Id:
rs776448491
ExAC:
14:45403710 T / G
gnomAD v2:
14-45403710-T-G
gnomAD v4:
14-44934507-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.44934507T>G , CM000676.2:g.44934507T>G | GRCh38 |
| NC_000014.8:g.45403710T>G , CM000676.1:g.45403710T>G | GRCh37 |
| NC_000014.7:g.44473460T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000396128.9:c.951A>C MANE Select | ENSP00000379434.4:p.Leu317= | |
| ENST00000355081.3:c.993A>C | ENSP00000347193.2:p.Leu331= | |
| ENST00000396128.8:c.951A>C | ENSP00000379434.3:p.Leu317= | |
| NM_001308112.1:c.993A>C | NP_001295041.1:p.Leu331= | |
| NM_017658.3:c.951A>C | NP_060128.2:p.Leu317= | |
| NM_017658.4:c.951A>C | NP_060128.2:p.Leu317= | |
| XM_005267770.2:c.951A>C | XP_005267827.1:p.Leu317= | |
| XM_011536847.1:c.951A>C | XP_011535149.1:p.Leu317= | |
| XM_011536848.1:c.951A>C | XP_011535150.1:p.Leu317= | |
| XM_011536849.1:c.993A>C | XP_011535151.1:p.Leu331= | |
| XM_005267770.4:c.951A>C | XP_005267827.1:p.Leu317= | |
| XM_011536847.3:c.951A>C | XP_011535149.1:p.Leu317= | |
| XM_011536849.2:c.993A>C | XP_011535151.1:p.Leu331= | |
| XM_024449635.1:c.951A>C | XP_024305403.1:p.Leu317= | |
| NM_001308112.2:c.993A>C | NP_001295041.1:p.Leu331= | |
| NM_017658.5:c.951A>C MANE Select | NP_060128.2:p.Leu317= |