Linked Data
ClinVar Variation Id:
534365
dbSNP Id:
rs35810926
ExAC:
14:21795949 G / C
gnomAD v2:
14-21795949-G-C
gnomAD v3:
14-21327790-G-C
gnomAD v4:
14-21327790-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21327790G>C , CM000676.2:g.21327790G>C | GRCh38 |
| NC_000014.8:g.21795949G>C , CM000676.1:g.21795949G>C | GRCh37 |
| NC_000014.7:g.20865789G>C | NCBI36 |
| NG_008933.1:g.44814G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400017.7:c.2878G>C MANE Select | ENSP00000382895.2:p.Ala960Pro | |
| ENST00000382933.8:c.856G>C | ENSP00000372391.4:p.Ala286Pro | |
| ENST00000400017.6:c.2878G>C | ENSP00000382895.2:p.Ala960Pro | |
| ENST00000553927.1:n.1810G>C | ||
| ENST00000555322.5:c.1305G>C | ||
| ENST00000555489.5:c.1071G>C | ENSP00000451044.1:n.1071G>C | |
| ENST00000555587.5:c.1303G>C | ENSP00000451262.1:p.Ala435Pro | |
| ENST00000556336.5:c.1849G>C | ENSP00000450445.1:p.Ala617Pro | |
| ENST00000557771.5:c.2764G>C | ENSP00000451219.1:p.Ala922Pro | |
| NM_020366.3:c.2878G>C | NP_065099.3:p.Ala960Pro | |
| XM_005267879.2:c.1804G>C | XP_005267936.1:p.Ala602Pro | |
| XM_005267880.2:c.1771G>C | XP_005267937.1:p.Ala591Pro | |
| XM_005267881.2:c.1252G>C | XP_005267938.1:p.Ala418Pro | |
| XM_011536978.1:c.1804G>C | XP_011535280.1:p.Ala602Pro | |
| XM_011536979.1:c.1588G>C | XP_011535281.1:p.Ala530Pro | |
| XM_011536980.1:c.1459G>C | XP_011535282.1:p.Ala487Pro | |
| XM_011536981.1:c.1309G>C | XP_011535283.1:p.Ala437Pro | |
| XM_011536982.1:c.964G>C | XP_011535284.1:p.Ala322Pro | |
| XM_011536983.1:c.2845G>C | XP_011535285.1:p.Ala949Pro | |
| XM_005267881.3:c.1252G>C | XP_005267938.1:p.Ala418Pro | |
| XM_017021473.1:c.1309G>C | XP_016876962.1:p.Ala437Pro | |
| XM_024449663.1:c.1804G>C | XP_024305431.1:p.Ala602Pro | |
| XM_024449664.1:c.1309G>C | XP_024305432.1:p.Ala437Pro | |
| XM_024449665.1:c.964G>C | XP_024305433.1:p.Ala322Pro | |
| XM_024449666.1:c.964G>C | XP_024305434.1:p.Ala322Pro | |
| NM_001377523.1:c.856G>C | NP_001364452.1:p.Ala286Pro | |
| NM_001377948.1:c.1804G>C | NP_001364877.1:p.Ala602Pro | |
| NM_001377949.1:c.964G>C | NP_001364878.1:p.Ala322Pro | |
| NM_001377950.1:c.856G>C | NP_001364879.1:p.Ala286Pro | |
| NM_001377951.1:c.358G>C | NP_001364880.1:p.Ala120Pro | |
| NM_020366.4:c.2878G>C MANE Select | NP_065099.3:p.Ala960Pro |