Linked Data
dbSNP Id:
rs773169179
ExAC:
6:51491892 A / G
gnomAD v2:
6-51491892-A-G
gnomAD v4:
6-51627094-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.51627094A>G , CM000668.2:g.51627094A>G | GRCh38 |
| NC_000006.11:g.51491892A>G , CM000668.1:g.51491892A>G | GRCh37 |
| NC_000006.10:g.51599851A>G | NCBI36 |
| NG_008753.1:g.465532T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371117.8:c.11688T>C MANE Select | ENSP00000360158.3:p.Pro3896= | |
| ENST00000371117.7:c.11688T>C | ENSP00000360158.3:p.Pro3896= | |
| NM_138694.3:c.11688T>C | NP_619639.3:p.Pro3896= | |
| XM_011514679.1:c.11688T>C | XP_011512981.1:p.Pro3896= | |
| XM_011514680.1:c.11688T>C | XP_011512982.1:p.Pro3896= | |
| XM_011514681.1:c.11559T>C | XP_011512983.1:p.Pro3853= | |
| XM_011514682.1:c.11550T>C | XP_011512984.1:p.Pro3850= | |
| XM_011514683.1:c.11046T>C | XP_011512985.1:p.Pro3682= | |
| XM_011514684.1:c.10977T>C | XP_011512986.1:p.Pro3659= | |
| XM_011514690.1:c.5763T>C | XP_011512992.1:p.Pro1921= | |
| XM_011514691.1:c.5763T>C | XP_011512993.1:p.Pro1921= | |
| XM_011514680.3:c.11688T>C | XP_011512982.1:p.Pro3896= | |
| XM_011514682.3:c.11550T>C | XP_011512984.1:p.Pro3850= | |
| XM_011514683.3:c.11046T>C | XP_011512985.1:p.Pro3682= | |
| XM_011514684.3:c.10977T>C | XP_011512986.1:p.Pro3659= | |
| XM_011514690.3:c.5763T>C | XP_011512992.1:p.Pro1921= | |
| XM_011514691.3:c.5763T>C | XP_011512993.1:p.Pro1921= | |
| XM_017010944.2:c.11688T>C | XP_016866433.1:p.Pro3896= | |
| XM_017010945.2:c.11613T>C | XP_016866434.1:p.Pro3871= | |
| XM_017010946.2:c.11493T>C | XP_016866435.1:p.Pro3831= | |
| XM_017010947.2:c.11424T>C | XP_016866436.1:p.Pro3808= | |
| XM_017010948.2:c.10977T>C | XP_016866437.1:p.Pro3659= | |
| XM_017010949.2:c.9828T>C | XP_016866438.1:p.Pro3276= | |
| NM_138694.4:c.11688T>C MANE Select | NP_619639.3:p.Pro3896= |