Linked Data
ClinVar Variation Id:
213166
dbSNP Id:
rs142316834
ExAC:
7:73480029 C / T
gnomAD v2:
7-73480029-C-T
gnomAD v3:
7-74065699-C-T
gnomAD v4:
7-74065699-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.74065699C>T , CM000669.2:g.74065699C>T | GRCh38 |
| NC_000007.13:g.73480029C>T , CM000669.1:g.73480029C>T | GRCh37 |
| NC_000007.12:g.73117965C>T | NCBI36 |
| NG_009261.1:g.42603C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000692049.1:c.2185C>T | ENSP00000510104.1:p.Pro729Ser | |
| ENST00000252034.12:c.1999C>T MANE Select | ENSP00000252034.7:p.Pro667Ser | |
| ENST00000252034.11:c.1999C>T | ENSP00000252034.7:p.Pro667Ser | |
| ENST00000320399.10:c.2098C>T | ENSP00000313565.6:p.Pro700Ser | |
| ENST00000320492.11:c.1756C>T | ENSP00000315607.7:p.Pro586Ser | |
| ENST00000357036.9:c.2014C>T | ENSP00000349540.5:p.Pro672Ser | |
| ENST00000358929.8:c.2185C>T | ENSP00000351807.5:p.Pro729Ser | |
| ENST00000380553.8:c.1591C>T | ENSP00000369926.4:p.Pro531Ser | |
| ENST00000380562.8:c.2017C>T | ENSP00000369936.4:p.Pro673Ser | |
| ENST00000380575.8:c.1912C>T | ENSP00000369949.4:p.Pro638Ser | |
| ENST00000380576.9:c.1942C>T | ENSP00000369950.5:p.Pro648Ser | |
| ENST00000380584.8:c.1855C>T | ENSP00000369958.4:p.Pro619Ser | |
| ENST00000414324.5:c.1927C>T | ENSP00000392575.1:p.Pro643Ser | |
| ENST00000429192.5:c.1957C>T | ENSP00000391129.1:p.Pro653Ser | |
| ENST00000445912.5:c.1999C>T | ENSP00000389857.1:p.Pro667Ser | |
| ENST00000458204.5:c.1969C>T | ENSP00000403162.1:p.Pro657Ser | |
| ENST00000621115.4:c.1732C>T | ENSP00000480955.1:p.Pro578Ser | |
| NM_000501.3:c.1999C>T | NP_000492.2:p.Pro667Ser | |
| NM_001081752.2:c.1912C>T | NP_001075221.1:p.Pro638Ser | |
| NM_001081753.2:c.1957C>T | NP_001075222.1:p.Pro653Ser | |
| NM_001081754.2:c.2014C>T | NP_001075223.1:p.Pro672Ser | |
| NM_001081755.2:c.1942C>T | NP_001075224.1:p.Pro648Ser | |
| NM_001278912.1:c.1999C>T | NP_001265841.1:p.Pro667Ser | |
| NM_001278913.1:c.1756C>T | NP_001265842.1:p.Pro586Ser | |
| NM_001278914.1:c.1927C>T | NP_001265843.1:p.Pro643Ser | |
| NM_001278915.1:c.2017C>T | NP_001265844.1:p.Pro673Ser | |
| NM_001278916.1:c.1855C>T | NP_001265845.1:p.Pro619Ser | |
| NM_001278917.1:c.1969C>T | NP_001265846.1:p.Pro657Ser | |
| NM_001278918.1:c.1732C>T | NP_001265847.1:p.Pro578Ser | |
| NM_001278939.1:c.2185C>T | NP_001265868.1:p.Pro729Ser | |
| XM_005250187.1:c.1963C>T | XP_005250244.1:p.Pro655Ser | |
| XM_005250188.1:c.1957C>T | XP_005250245.1:p.Pro653Ser | |
| XM_011515868.1:c.2014C>T | XP_011514170.1:p.Pro672Ser | |
| XM_011515869.1:c.1984C>T | XP_011514171.1:p.Pro662Ser | |
| XM_011515870.1:c.1978C>T | XP_011514172.1:p.Pro660Ser | |
| XM_011515871.1:c.1972C>T | XP_011514173.1:p.Pro658Ser | |
| XM_011515872.1:c.1960C>T | XP_011514174.1:p.Pro654Ser | |
| XM_011515873.1:c.1957C>T | XP_011514175.1:p.Pro653Ser | |
| XM_011515874.1:c.1948C>T | XP_011514176.1:p.Pro650Ser | |
| XM_011515875.1:c.1933C>T | XP_011514177.1:p.Pro645Ser | |
| XM_011515876.1:c.2014C>T | XP_011514178.1:p.Pro672Ser | |
| XM_011515877.1:c.1903C>T | XP_011514179.1:p.Pro635Ser | |
| XM_005250187.2:c.1963C>T | XP_005250244.1:p.Pro655Ser | |
| XM_005250188.2:c.1957C>T | XP_005250245.1:p.Pro653Ser | |
| XM_011515868.2:c.2014C>T | XP_011514170.1:p.Pro672Ser | |
| XM_011515871.2:c.1972C>T | XP_011514173.1:p.Pro658Ser | |
| XM_011515872.2:c.1960C>T | XP_011514174.1:p.Pro654Ser | |
| XM_011515873.2:c.1957C>T | XP_011514175.1:p.Pro653Ser | |
| XM_011515875.2:c.1933C>T | XP_011514177.1:p.Pro645Ser | |
| XM_011515876.2:c.2014C>T | XP_011514178.1:p.Pro672Ser | |
| XM_011515877.2:c.1903C>T | XP_011514179.1:p.Pro635Ser | |
| XM_017011813.1:c.1927C>T | XP_016867302.1:p.Pro643Ser | |
| XM_017011814.2:c.1915C>T | XP_016867303.1:p.Pro639Ser | |
| NM_000501.4:c.1999C>T MANE Select | NP_000492.2:p.Pro667Ser | |
| NM_001081752.3:c.1912C>T | NP_001075221.1:p.Pro638Ser | |
| NM_001081753.3:c.1957C>T | NP_001075222.1:p.Pro653Ser | |
| NM_001081754.3:c.2014C>T | NP_001075223.1:p.Pro672Ser | |
| NM_001081755.3:c.1942C>T | NP_001075224.1:p.Pro648Ser | |
| NM_001278912.2:c.1999C>T | NP_001265841.1:p.Pro667Ser | |
| NM_001278913.2:c.1756C>T | NP_001265842.1:p.Pro586Ser | |
| NM_001278914.2:c.1927C>T | NP_001265843.1:p.Pro643Ser | |
| NM_001278915.2:c.2017C>T | NP_001265844.1:p.Pro673Ser | |
| NM_001278916.2:c.1855C>T | NP_001265845.1:p.Pro619Ser | |
| NM_001278917.2:c.1969C>T | NP_001265846.1:p.Pro657Ser | |
| NM_001278918.2:c.1732C>T | NP_001265847.1:p.Pro578Ser | |
| NM_001278939.2:c.2185C>T | NP_001265868.1:p.Pro729Ser |