Linked Data
ClinVar Variation Id:
518168
dbSNP Id:
rs539609673
ExAC:
1:220324975 G / A
gnomAD v2:
1-220324975-G-A
gnomAD v3:
1-220151633-G-A
gnomAD v4:
1-220151633-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.220151633G>A , CM000663.2:g.220151633G>A | GRCh38 |
| NC_000001.10:g.220324975G>A , CM000663.1:g.220324975G>A | GRCh37 |
| NC_000001.9:g.218391598G>A | NCBI36 |
| NG_015837.1:g.125869C>T | |
| NG_015837.2:g.125869C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474966.2:n.1991C>T | ||
| ENST00000491005.6:n.5025C>T | ||
| ENST00000491305.2:n.4494C>T | ||
| ENST00000685286.1:c.*1324C>T | ENSP00000509457.1:n.*1324C>T | |
| ENST00000685664.1:c.3999C>T | ENSP00000509121.1:p.Pro1333= | |
| ENST00000686381.1:c.3735C>T | ENSP00000509555.1:p.Pro1245= | |
| ENST00000687065.1:c.3735C>T | ENSP00000510408.1:p.Pro1245= | |
| ENST00000687647.1:c.3735C>T | ENSP00000509205.1:p.Pro1245= | |
| ENST00000688035.1:n.7009C>T | ||
| ENST00000690315.1:c.3900C>T | ENSP00000509834.1:p.Pro1300= | |
| ENST00000690373.1:n.4338C>T | ||
| ENST00000690824.1:c.3924C>T | ENSP00000510709.1:p.Pro1308= | |
| ENST00000691661.1:c.4011C>T | ENSP00000510185.1:p.Pro1337= | |
| ENST00000691862.1:c.3897C>T | ENSP00000509291.1:p.Pro1299= | |
| ENST00000692813.1:c.3963C>T | ENSP00000509080.1:p.Pro1321= | |
| ENST00000692972.1:c.4074C>T | ENSP00000510753.1:p.Pro1358= | |
| ENST00000693602.1:n.6585C>T | ||
| ENST00000358951.7:c.3999C>T MANE Select | ENSP00000351832.2:p.Pro1333= | |
| ENST00000358951.6:c.3999C>T | ENSP00000351832.2:p.Pro1333= | |
| ENST00000474966.1:n.670C>T | ||
| ENST00000491005.5:n.447C>T | ||
| ENST00000491305.1:n.815C>T | ||
| NM_012414.3:c.3999C>T | NP_036546.2:p.Pro1333= | |
| NM_012414.4:c.3999C>T MANE Select | NP_036546.2:p.Pro1333= |