Linked Data
ClinVar Variation Id:
2429916
ClinVar RCV Id:
RCV003127355
dbSNP Id:
rs780426892
ExAC:
5:14465697 C / T
gnomAD v2:
5-14465697-C-T
gnomAD v3:
5-14465588-C-T
gnomAD v4:
5-14465588-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.14465588C>T , CM000667.2:g.14465588C>T | GRCh38 |
| NC_000005.9:g.14465697C>T , CM000667.1:g.14465697C>T | GRCh37 |
| NC_000005.8:g.14518697C>T | NCBI36 |
| NG_052962.1:g.326887C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698542.1:c.620C>T | ENSP00000513787.1:p.Pro207Leu | |
| ENST00000344204.9:c.5711C>T MANE Select | ENSP00000339299.4:p.Pro1904Leu | |
| ENST00000639876.2:c.620C>T | ENSP00000492184.2:p.Pro207Leu | |
| ENST00000344204.8:c.5711C>T | ENSP00000339299.4:p.Pro1904Leu | |
| ENST00000512070.6:c.5534C>T | ENSP00000421555.2:p.Pro1845Leu | |
| ENST00000513206.5:c.4910C>T | ENSP00000426342.2:p.Pro1637Leu | |
| ENST00000515144.5:n.4629C>T | ||
| ENST00000515710.1:n.1050C>T | ||
| NM_007118.2:c.5711C>T | NP_009049.2:p.Pro1904Leu | |
| XM_011514107.1:c.5648C>T | XP_011512409.1:p.Pro1883Leu | |
| XM_011514108.1:c.5594C>T | XP_011512410.1:p.Pro1865Leu | |
| XM_011514109.1:c.5564C>T | XP_011512411.1:p.Pro1855Leu | |
| XM_011514110.1:c.5534C>T | XP_011512412.1:p.Pro1845Leu | |
| XM_011514111.1:c.5534C>T | XP_011512413.1:p.Pro1845Leu | |
| XM_011514112.1:c.4256C>T | XP_011512414.1:p.Pro1419Leu | |
| XR_241714.1:n.5729C>T | ||
| NM_007118.3:c.5711C>T | NP_009049.2:p.Pro1904Leu | |
| NR_134469.1:n.5735C>T | ||
| XM_011514107.2:c.5648C>T | XP_011512409.1:p.Pro1883Leu | |
| XM_011514109.3:c.5564C>T | XP_011512411.1:p.Pro1855Leu | |
| XM_011514110.3:c.5534C>T | XP_011512412.1:p.Pro1845Leu | |
| XM_017009801.1:c.5711C>T | XP_016865290.1:p.Pro1904Leu | |
| XM_017009802.1:c.5711C>T | XP_016865291.1:p.Pro1904Leu | |
| XM_017009803.1:c.4256C>T | XP_016865292.1:p.Pro1419Leu | |
| NM_007118.4:c.5711C>T MANE Select | NP_009049.2:p.Pro1904Leu | |
| NR_134469.2:n.6095C>T |