Linked Data
dbSNP Id:
rs139709573
ExAC:
15:102186966 G / A
gnomAD v2:
15-102186966-G-A
gnomAD v3:
15-101646763-G-A
gnomAD v4:
15-101646763-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.101646763G>A , CM000677.2:g.101646763G>A | GRCh38 |
| NC_000015.9:g.102186966G>A , CM000677.1:g.102186966G>A | GRCh37 |
| NC_000015.8:g.100004489G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000333202.8:c.464C>T MANE Select | ENSP00000330433.3:p.Pro155Leu | |
| ENST00000333202.7:c.464C>T | ENSP00000330433.3:p.Pro155Leu | |
| ENST00000347970.7:c.386C>T | ENSP00000327584.3:p.Pro129Leu | |
| ENST00000428002.6:c.386C>T | ENSP00000402179.2:p.Pro129Leu | |
| ENST00000558129.5:c.295C>T | ||
| ENST00000558677.5:c.765C>T | ||
| ENST00000559024.5:n.485C>T | ||
| ENST00000559107.5:c.464C>T | ENSP00000454131.1:p.Pro155Leu | |
| ENST00000560013.5:c.*832C>T | ENSP00000453503.1:n.*832C>T | |
| ENST00000560910.5:n.406C>T | ||
| ENST00000561373.1:c.269C>T | ENSP00000452823.1:p.Pro90Leu | |
| NM_001307960.1:c.386C>T | NP_001294889.1:p.Pro129Leu | |
| NM_001308026.1:c.464C>T | NP_001294955.1:p.Pro155Leu | |
| NM_025141.3:c.386C>T | NP_079417.2:p.Pro129Leu | |
| NM_078474.2:c.464C>T | NP_510883.2:p.Pro155Leu | |
| NM_078474.3:c.464C>T MANE Select | NP_510883.2:p.Pro155Leu | |
| NM_001307960.2:c.386C>T | NP_001294889.1:p.Pro129Leu | |
| NM_001308026.2:c.464C>T | NP_001294955.1:p.Pro155Leu | |
| NM_025141.4:c.386C>T | NP_079417.2:p.Pro129Leu |