Linked Data
ClinVar Variation Id:
2838174
ClinVar RCV Id:
RCV003694908
dbSNP Id:
rs558176371
ExAC:
2:215884291 G / A
gnomAD v2:
2-215884291-G-A
gnomAD v3:
2-215019567-G-A
gnomAD v4:
2-215019567-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.215019567G>A , CM000664.2:g.215019567G>A | GRCh38 |
| NC_000002.11:g.215884291G>A , CM000664.1:g.215884291G>A | GRCh37 |
| NC_000002.10:g.215592536G>A | NCBI36 |
| NG_007074.1:g.123861C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272895.12:c.1517C>T MANE Select | ENSP00000272895.7:p.Pro506Leu | |
| ENST00000272895.11:c.1517C>T | ENSP00000272895.7:p.Pro506Leu | |
| ENST00000389661.4:c.563C>T | ENSP00000374312.4:p.Pro188Leu | |
| NM_015657.3:c.563C>T | NP_056472.2:p.Pro188Leu | |
| NM_173076.2:c.1517C>T | NP_775099.2:p.Pro506Leu | |
| NR_103740.1:n.1761C>T | ||
| XM_011510951.1:c.1517C>T | XP_011509253.1:p.Pro506Leu | |
| XM_011510952.1:c.1517C>T | XP_011509254.1:p.Pro506Leu | |
| XM_011510951.2:c.1517C>T | XP_011509253.1:p.Pro506Leu | |
| NM_173076.3:c.1517C>T MANE Select | NP_775099.2:p.Pro506Leu | |
| NR_103740.2:n.1959C>T | ||
| NM_015657.4:c.563C>T | NP_056472.2:p.Pro188Leu |